Canonical Allele Identifier: CA1047752477

Gene: AMT

Linked Data

• dbSNP Id: rs2049120955
• gnomAD v3: 3-49422320-T-G
• gnomAD v4: 3-49422320-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422320T>G , CM000665.2:g.49422320T>G	GRCh38
NC_000003.11:g.49459753T>G , CM000665.1:g.49459753T>G	GRCh37
NC_000003.10:g.49434757T>G	NCBI36
NG_015986.1:g.5359A>C , LRG_537:g.5359A>C
NG_033046.1:g.12005A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.90+41A>C MANE Select	ENSP00000273588.3:n.90+41A>C
ENST00000395338.7:c.90+41A>C	ENSP00000378747.2:n.90+41A>C
ENST00000399379.7:c.60+41A>C	ENSP00000399943.2:n.60+41A>C
ENST00000427987.6:c.-41+41A>C	ENSP00000403821.2:n.-41+41A>C
ENST00000430521.2:c.90+41A>C	ENSP00000388068.2:n.90+41A>C
ENST00000462048.2:c.-102+119A>C	ENSP00000490465.1:n.-102+119A>C
ENST00000465925.6:n.109+41A>C
ENST00000473163.2:n.144A>C
ENST00000476226.6:n.103+41A>C
ENST00000478594.6:n.109+41A>C
ENST00000480957.6:n.108+41A>C
ENST00000485108.6:n.221-49A>C
ENST00000487589.6:n.17+41A>C
ENST00000491800.3:n.153A>C
ENST00000493046.6:n.139A>C
ENST00000538581.6:c.-41+41A>C	ENSP00000443200.2:n.-41+41A>C
ENST00000635772.1:n.94+41A>C
ENST00000635808.1:c.90+41A>C	ENSP00000489620.1:n.90+41A>C
ENST00000635889.1:n.113+41A>C
ENST00000635936.1:n.34A>C
ENST00000636023.1:c.90+41A>C	ENSP00000489969.1:n.90+41A>C
ENST00000636070.1:c.90+41A>C	ENSP00000490160.1:n.90+41A>C
ENST00000636148.1:n.112A>C
ENST00000636166.1:c.496-748A>C	ENSP00000490106.1:n.496-748A>C
ENST00000636199.1:c.90+41A>C	ENSP00000490871.1:n.90+41A>C
ENST00000636204.1:n.1324A>C
ENST00000636461.1:c.3154A>C
ENST00000636522.1:c.90+41A>C	ENSP00000489758.1:n.90+41A>C
ENST00000636587.1:n.274A>C
ENST00000636597.1:c.90+41A>C	ENSP00000490251.1:n.90+41A>C
ENST00000636725.1:n.94+41A>C
ENST00000636803.1:n.94+41A>C
ENST00000636865.1:c.-41+41A>C	ENSP00000490601.1:n.-41+41A>C
ENST00000636871.1:n.33+41A>C
ENST00000636978.1:n.94+41A>C
ENST00000636991.1:n.113+41A>C
ENST00000637088.1:n.3597A>C
ENST00000637114.1:n.82+41A>C
ENST00000637268.1:n.109+41A>C
ENST00000637291.1:n.98+41A>C
ENST00000637442.1:n.1537A>C
ENST00000637457.1:n.131+41A>C
ENST00000637682.1:c.90+41A>C	ENSP00000489856.1:n.90+41A>C
ENST00000637684.1:n.144A>C
ENST00000637821.1:c.90+41A>C	ENSP00000490482.1:n.90+41A>C
ENST00000637914.1:n.109+41A>C
ENST00000637982.1:n.34A>C
ENST00000637994.1:n.100+41A>C
ENST00000638014.1:c.2823A>C
ENST00000638063.1:c.90+41A>C	ENSP00000489760.1:n.90+41A>C
ENST00000638079.1:c.*607-49A>C	ENSP00000490120.1:n.*607-49A>C
ENST00000638092.1:n.94+41A>C
ENST00000638115.1:c.*1852-49A>C	ENSP00000490296.1:n.*1852-49A>C
ENST00000273588.7:c.90+41A>C	ENSP00000273588.3:n.90+41A>C
ENST00000395338.6:c.90+41A>C	ENSP00000378747.2:n.90+41A>C
ENST00000399379.6:c.90+41A>C	ENSP00000399943.1:n.90+41A>C
ENST00000427987.5:c.82+41A>C
ENST00000430521.1:c.90+41A>C	ENSP00000388068.1:n.90+41A>C
ENST00000458307.6:c.90+41A>C	ENSP00000415619.2:n.90+41A>C
ENST00000462048.1:n.247+119A>C
ENST00000476226.5:n.169+41A>C
ENST00000478594.5:n.98+41A>C
ENST00000480957.5:n.98+41A>C
ENST00000485108.5:n.98+41A>C
ENST00000487589.5:n.144A>C
ENST00000493046.5:n.91+41A>C
ENST00000495436.5:n.132A>C
ENST00000498571.1:n.88+41A>C
ENST00000538581.5:c.90+41A>C	ENSP00000443200.1:n.90+41A>C
NM_000481.3:c.90+41A>C , LRG_537t1:c.90+41A>C	NP_000472.2:n.90+41A>C
NM_001164710.1:c.90+41A>C	NP_001158182.1:n.90+41A>C
NM_001164711.1:c.90+41A>C	NP_001158183.1:n.90+41A>C
NM_001164712.1:c.90+41A>C	NP_001158184.1:n.90+41A>C
NR_028435.1:n.318+41A>C
NM_000481.4:c.90+41A>C MANE Select	NP_000472.2:n.90+41A>C
NM_001164710.2:c.90+41A>C	NP_001158182.1:n.90+41A>C
NM_001164711.2:c.90+41A>C	NP_001158183.1:n.90+41A>C
NM_001164712.2:c.90+41A>C	NP_001158184.1:n.90+41A>C
NR_028435.2:n.113+41A>C