Canonical Allele Identifier: CA2398482

Gene: AMT

Linked Data

• dbSNP Id: rs377597372
• ExAC: 3:49459751 G / A
• gnomAD v2: 3-49459751-G-A
• gnomAD v3: 3-49422318-G-A
• gnomAD v4: 3-49422318-G-A
• MyVariant Identifiers: chr3:g.49459751G>A (hg19) ; chr3:g.49422318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422318G>A , CM000665.2:g.49422318G>A	GRCh38
NC_000003.11:g.49459751G>A , CM000665.1:g.49459751G>A	GRCh37
NC_000003.10:g.49434755G>A	NCBI36
NG_015986.1:g.5361C>T , LRG_537:g.5361C>T
NG_033046.1:g.12007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.90+43C>T MANE Select	ENSP00000273588.3:n.90+43C>T
ENST00000395338.7:c.90+43C>T	ENSP00000378747.2:n.90+43C>T
ENST00000399379.7:c.60+43C>T	ENSP00000399943.2:n.60+43C>T
ENST00000427987.6:c.-41+43C>T	ENSP00000403821.2:n.-41+43C>T
ENST00000430521.2:c.90+43C>T	ENSP00000388068.2:n.90+43C>T
ENST00000462048.2:c.-102+121C>T	ENSP00000490465.1:n.-102+121C>T
ENST00000465925.6:n.109+43C>T
ENST00000473163.2:n.146C>T
ENST00000476226.6:n.103+43C>T
ENST00000478594.6:n.109+43C>T
ENST00000480957.6:n.108+43C>T
ENST00000485108.6:n.221-47C>T
ENST00000487589.6:n.17+43C>T
ENST00000491800.3:n.155C>T
ENST00000493046.6:n.141C>T
ENST00000538581.6:c.-41+43C>T	ENSP00000443200.2:n.-41+43C>T
ENST00000635772.1:n.94+43C>T
ENST00000635808.1:c.90+43C>T	ENSP00000489620.1:n.90+43C>T
ENST00000635889.1:n.113+43C>T
ENST00000635936.1:n.36C>T
ENST00000636023.1:c.90+43C>T	ENSP00000489969.1:n.90+43C>T
ENST00000636070.1:c.90+43C>T	ENSP00000490160.1:n.90+43C>T
ENST00000636148.1:n.114C>T
ENST00000636166.1:c.496-746C>T	ENSP00000490106.1:n.496-746C>T
ENST00000636199.1:c.90+43C>T	ENSP00000490871.1:n.90+43C>T
ENST00000636204.1:n.1326C>T
ENST00000636461.1:c.3156C>T
ENST00000636522.1:c.90+43C>T	ENSP00000489758.1:n.90+43C>T
ENST00000636587.1:n.276C>T
ENST00000636597.1:c.90+43C>T	ENSP00000490251.1:n.90+43C>T
ENST00000636725.1:n.94+43C>T
ENST00000636803.1:n.94+43C>T
ENST00000636865.1:c.-41+43C>T	ENSP00000490601.1:n.-41+43C>T
ENST00000636871.1:n.33+43C>T
ENST00000636978.1:n.94+43C>T
ENST00000636991.1:n.113+43C>T
ENST00000637088.1:n.3599C>T
ENST00000637114.1:n.82+43C>T
ENST00000637268.1:n.109+43C>T
ENST00000637291.1:n.98+43C>T
ENST00000637442.1:n.1539C>T
ENST00000637457.1:n.131+43C>T
ENST00000637682.1:c.90+43C>T	ENSP00000489856.1:n.90+43C>T
ENST00000637684.1:n.146C>T
ENST00000637821.1:c.90+43C>T	ENSP00000490482.1:n.90+43C>T
ENST00000637914.1:n.109+43C>T
ENST00000637982.1:n.36C>T
ENST00000637994.1:n.100+43C>T
ENST00000638014.1:c.2825C>T
ENST00000638063.1:c.90+43C>T	ENSP00000489760.1:n.90+43C>T
ENST00000638079.1:c.*607-47C>T	ENSP00000490120.1:n.*607-47C>T
ENST00000638092.1:n.94+43C>T
ENST00000638115.1:c.*1852-47C>T	ENSP00000490296.1:n.*1852-47C>T
ENST00000273588.7:c.90+43C>T	ENSP00000273588.3:n.90+43C>T
ENST00000395338.6:c.90+43C>T	ENSP00000378747.2:n.90+43C>T
ENST00000399379.6:c.90+43C>T	ENSP00000399943.1:n.90+43C>T
ENST00000427987.5:c.82+43C>T
ENST00000430521.1:c.90+43C>T	ENSP00000388068.1:n.90+43C>T
ENST00000458307.6:c.90+43C>T	ENSP00000415619.2:n.90+43C>T
ENST00000462048.1:n.247+121C>T
ENST00000476226.5:n.169+43C>T
ENST00000478594.5:n.98+43C>T
ENST00000480957.5:n.98+43C>T
ENST00000485108.5:n.98+43C>T
ENST00000487589.5:n.146C>T
ENST00000493046.5:n.91+43C>T
ENST00000495436.5:n.134C>T
ENST00000498571.1:n.88+43C>T
ENST00000538581.5:c.90+43C>T	ENSP00000443200.1:n.90+43C>T
NM_000481.3:c.90+43C>T , LRG_537t1:c.90+43C>T	NP_000472.2:n.90+43C>T
NM_001164710.1:c.90+43C>T	NP_001158182.1:n.90+43C>T
NM_001164711.1:c.90+43C>T	NP_001158183.1:n.90+43C>T
NM_001164712.1:c.90+43C>T	NP_001158184.1:n.90+43C>T
NR_028435.1:n.318+43C>T
NM_000481.4:c.90+43C>T MANE Select	NP_000472.2:n.90+43C>T
NM_001164710.2:c.90+43C>T	NP_001158182.1:n.90+43C>T
NM_001164711.2:c.90+43C>T	NP_001158183.1:n.90+43C>T
NM_001164712.2:c.90+43C>T	NP_001158184.1:n.90+43C>T
NR_028435.2:n.113+43C>T