Canonical Allele Identifier: CA617686833

Gene: GATM

Linked Data

• dbSNP Id: rs1412998172
• gnomAD v2: 15-45685693-G-A
• gnomAD v3: 15-45393495-G-A
• gnomAD v4: 15-45393495-G-A
• MyVariant Identifiers: chr15:g.45685693G>A (hg19) ; chr15:g.45393495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45393495G>A , CM000677.2:g.45393495G>A	GRCh38
NC_000015.9:g.45685693G>A , CM000677.1:g.45685693G>A	GRCh37
NC_000015.8:g.43472985G>A	NCBI36
NG_011674.2:g.13823C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000458245.5:n.640+3427C>T
ENST00000527933.2:n.512+2672C>T
ENST00000560538.1:n.338+3427C>T
ENST00000561148.5:c.-319+3427C>T	ENSP00000453860.1:n.-319+3427C>T
XM_011521450.1:c.31+3427C>T	XP_011519752.1:n.31+3427C>T
NM_001321015.1:c.-395+3427C>T	NP_001307944.1:n.-395+3427C>T
NM_001321015.2:c.-395+3427C>T	NP_001307944.1:n.-395+3427C>T