Canonical Allele Identifier: CA74516477

Gene: AMT

Linked Data

• ClinVar Variation Id: 972290
• ClinVar RCV Id: RCV001248283
• dbSNP Id: rs1008341193
• gnomAD v2: 3-49459622-G-A
• gnomAD v3: 3-49422189-G-A
• gnomAD v4: 3-49422189-G-A
• MyVariant Identifiers: chr3:g.49459622G>A (hg19) ; chr3:g.49422189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422189G>A , CM000665.2:g.49422189G>A	GRCh38
NC_000003.11:g.49459622G>A , CM000665.1:g.49459622G>A	GRCh37
NC_000003.10:g.49434626G>A	NCBI36
NG_015986.1:g.5490C>T , LRG_537:g.5490C>T
NG_033046.1:g.12136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.173C>T MANE Select	ENSP00000273588.3:p.Pro58Leu
ENST00000395338.7:c.173C>T	ENSP00000378747.2:p.Pro58Leu
ENST00000399379.7:c.60+172C>T	ENSP00000399943.2:n.60+172C>T
ENST00000427987.6:c.29C>T	ENSP00000403821.2:p.Pro10Leu
ENST00000430521.2:c.91-140C>T	ENSP00000388068.2:n.91-140C>T
ENST00000462048.2:c.-101-140C>T	ENSP00000490465.1:n.-101-140C>T
ENST00000465925.6:n.192C>T
ENST00000473163.2:n.275C>T
ENST00000476127.6:n.50C>T
ENST00000476226.6:n.172C>T
ENST00000478594.6:n.178C>T
ENST00000480957.6:n.191C>T
ENST00000485108.6:n.303C>T
ENST00000487589.6:n.86C>T
ENST00000491800.3:n.284C>T
ENST00000493046.6:n.270C>T
ENST00000538581.6:c.29C>T	ENSP00000443200.2:p.Pro10Leu
ENST00000635772.1:n.177C>T
ENST00000635808.1:c.173C>T	ENSP00000489620.1:p.Pro58Leu
ENST00000635889.1:n.182C>T
ENST00000635936.1:n.165C>T
ENST00000636023.1:c.173C>T	ENSP00000489969.1:p.Pro58Leu
ENST00000636070.1:c.91-140C>T	ENSP00000490160.1:n.91-140C>T
ENST00000636148.1:n.243C>T
ENST00000636166.1:c.496-617C>T	ENSP00000490106.1:n.496-617C>T
ENST00000636199.1:c.173C>T	ENSP00000490871.1:p.Pro58Leu
ENST00000636204.1:n.1455C>T
ENST00000636461.1:c.3285C>T
ENST00000636522.1:c.90+172C>T	ENSP00000489758.1:n.90+172C>T
ENST00000636587.1:n.405C>T
ENST00000636597.1:c.173C>T	ENSP00000490251.1:p.Pro58Leu
ENST00000636725.1:n.163C>T
ENST00000636803.1:n.163C>T
ENST00000636865.1:c.29C>T	ENSP00000490601.1:p.Pro10Leu
ENST00000636871.1:n.116C>T
ENST00000636978.1:n.177C>T
ENST00000636991.1:n.196C>T
ENST00000637088.1:n.3728C>T
ENST00000637114.1:n.165C>T
ENST00000637268.1:n.178C>T
ENST00000637291.1:n.181C>T
ENST00000637442.1:n.1668C>T
ENST00000637457.1:n.200C>T
ENST00000637682.1:c.173C>T	ENSP00000489856.1:p.Pro58Leu
ENST00000637684.1:n.275C>T
ENST00000637821.1:c.91-140C>T	ENSP00000490482.1:n.91-140C>T
ENST00000637914.1:n.192C>T
ENST00000637982.1:n.165C>T
ENST00000637994.1:n.183C>T
ENST00000638014.1:c.2954C>T
ENST00000638063.1:c.173C>T	ENSP00000489760.1:p.Pro58Leu
ENST00000638079.1:c.*689C>T	ENSP00000490120.1:n.*689C>T
ENST00000638092.1:n.163C>T
ENST00000638115.1:c.*1934C>T	ENSP00000490296.1:n.*1934C>T
ENST00000273588.7:c.173C>T	ENSP00000273588.3:p.Pro58Leu
ENST00000395338.6:c.173C>T	ENSP00000378747.2:p.Pro58Leu
ENST00000399379.6:c.91-140C>T	ENSP00000399943.1:n.91-140C>T
ENST00000427987.5:c.165C>T
ENST00000430521.1:c.90+172C>T	ENSP00000388068.1:n.90+172C>T
ENST00000458307.6:c.173C>T	ENSP00000415619.2:p.Pro58Leu
ENST00000462048.1:n.248-140C>T
ENST00000476226.5:n.238C>T
ENST00000478594.5:n.167C>T
ENST00000480957.5:n.181C>T
ENST00000485108.5:n.167C>T
ENST00000487589.5:n.275C>T
ENST00000493046.5:n.92-140C>T
ENST00000495436.5:n.263C>T
ENST00000498571.1:n.171C>T
ENST00000538581.5:c.90+172C>T	ENSP00000443200.1:n.90+172C>T
NM_000481.3:c.173C>T , LRG_537t1:c.173C>T	NP_000472.2:p.Pro58Leu
NM_001164710.1:c.173C>T	NP_001158182.1:p.Pro58Leu
NM_001164711.1:c.90+172C>T	NP_001158183.1:n.90+172C>T
NM_001164712.1:c.173C>T	NP_001158184.1:p.Pro58Leu
NR_028435.1:n.387C>T
NM_000481.4:c.173C>T MANE Select	NP_000472.2:p.Pro58Leu
NM_001164710.2:c.173C>T	NP_001158182.1:p.Pro58Leu
NM_001164711.2:c.90+172C>T	NP_001158183.1:n.90+172C>T
NM_001164712.2:c.173C>T	NP_001158184.1:p.Pro58Leu
NR_028435.2:n.182C>T