Canonical Allele Identifier: CA631044773

Gene: GAMT

Linked Data

• dbSNP Id: rs1044243937
• gnomAD v2: 19-1399677-C-G
• gnomAD v3: 19-1399678-C-G
• gnomAD v4: 19-1399678-C-G
• MyVariant Identifiers: chr19:g.1399677C>G (hg19) ; chr19:g.1399678C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399678C>G , CM000681.2:g.1399678C>G	GRCh38
NC_000019.9:g.1399677C>G , CM000681.1:g.1399677C>G	GRCh37
NC_000019.8:g.1350677C>G	NCBI36
NG_009785.1:g.6876G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.328-91G>C MANE Select	ENSP00000252288.1:n.328-91G>C
ENST00000447102.8:c.328-91G>C	ENSP00000403536.2:n.328-91G>C
ENST00000591788.3:c.11-91G>C
ENST00000640164.1:n.70G>C
ENST00000640762.1:c.259-91G>C	ENSP00000492031.1:n.259-91G>C
ENST00000252288.6:c.328-91G>C	ENSP00000252288.1:n.328-91G>C
ENST00000447102.7:c.328-91G>C	ENSP00000403536.2:n.328-91G>C
ENST00000591788.2:c.13-91G>C	ENSP00000466341.2:n.13-91G>C
NM_000156.5:c.328-91G>C	NP_000147.1:n.328-91G>C
NM_138924.2:c.328-91G>C	NP_620279.1:n.328-91G>C
NM_000156.6:c.328-91G>C MANE Select	NP_000147.1:n.328-91G>C
NM_138924.3:c.328-91G>C	NP_620279.1:n.328-91G>C