Canonical Allele Identifier: CA10646087

Gene: GATM

Linked Data

• ClinVar Variation Id: 316201
• ClinVar RCV Id: RCV000377389
• dbSNP Id: rs17618637
• gnomAD v2: 15-45653394-C-T
• gnomAD v3: 15-45361196-C-T
• gnomAD v4: 15-45361196-C-T
• MyVariant Identifiers: chr15:g.45653394C>T (hg19) ; chr15:g.45361196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45361196C>T , CM000677.2:g.45361196C>T	GRCh38
NC_000015.9:g.45653394C>T , CM000677.1:g.45653394C>T	GRCh37
NC_000015.8:g.43440686C>T	NCBI36
NG_011674.1:g.22587G>A
NG_011674.2:g.46122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396659.8:c.*913G>A MANE Select	ENSP00000379895.3:n.*913G>A
ENST00000675323.1:c.*2687G>A	ENSP00000502445.1:n.*2687G>A
ENST00000676090.1:c.*2916G>A	ENSP00000501630.1:n.*2916G>A
ENST00000396659.7:c.*913G>A	ENSP00000379895.3:n.*913G>A
ENST00000558362.5:n.3841G>A
NM_001482.2:c.*913G>A	NP_001473.1:n.*913G>A
XM_011521450.1:c.*913G>A	XP_011519752.1:n.*913G>A
XM_011521451.1:c.*913G>A	XP_011519753.1:n.*913G>A
NM_001321015.1:c.*913G>A	NP_001307944.1:n.*913G>A
NM_001482.3:c.*913G>A MANE Select	NP_001473.1:n.*913G>A
NM_001321015.2:c.*913G>A	NP_001307944.1:n.*913G>A