Canonical Allele Identifier: CA655995940

Gene: GATM

Linked Data

• dbSNP Id: rs1316689589
• gnomAD v3: 15-45393503-T-C
• gnomAD v4: 15-45393503-T-C
• COSMIC: COSN6273522
• MyVariant Identifiers: chr15:g.45685701T>C (hg19) ; chr15:g.45393503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393503T>C , CM000677.2:g.45393503T>C	GRCh38
NC_000015.9:g.45685701T>C , CM000677.1:g.45685701T>C	GRCh37
NC_000015.8:g.43472993T>C	NCBI36
NG_011674.2:g.13815A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458245.5:n.640+3419A>G
ENST00000527933.2:n.512+2664A>G
ENST00000560538.1:n.338+3419A>G
ENST00000561148.5:c.-319+3419A>G	ENSP00000453860.1:n.-319+3419A>G
XM_011521450.1:c.31+3419A>G	XP_011519752.1:n.31+3419A>G
NM_001321015.1:c.-395+3419A>G	NP_001307944.1:n.-395+3419A>G
NM_001321015.2:c.-395+3419A>G	NP_001307944.1:n.-395+3419A>G