Canonical Allele Identifier: CA504731624

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1108014
• ClinVar RCV Id: RCV001433357
• dbSNP Id: rs1442811967
• gnomAD v4: 19-1401336-G-C
• MyVariant Identifiers: chr19:g.1401335G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1401336G>C , CM000681.2:g.1401336G>C	GRCh38
NC_000019.9:g.1401335G>C , CM000681.1:g.1401335G>C	GRCh37
NC_000019.8:g.1352335G>C	NCBI36
NG_009785.1:g.5218C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.141C>G MANE Select	ENSP00000252288.1:p.Thr47=
ENST00000447102.8:c.141C>G	ENSP00000403536.2:p.Thr47=
ENST00000640762.1:c.112+29C>G	ENSP00000492031.1:n.112+29C>G
ENST00000252288.6:c.141C>G	ENSP00000252288.1:p.Thr47=
ENST00000447102.7:c.141C>G	ENSP00000403536.2:p.Thr47=
NM_000156.5:c.141C>G	NP_000147.1:p.Thr47=
NM_138924.2:c.141C>G	NP_620279.1:p.Thr47=
NM_000156.6:c.141C>G MANE Select	NP_000147.1:p.Thr47=
NM_138924.3:c.141C>G	NP_620279.1:p.Thr47=