Canonical Allele Identifier: CA9043630

Gene: GAMT

Linked Data

• ClinVar Variation Id: 1100968
• ClinVar RCV Id: RCV001423717
• dbSNP Id: rs368650653
• ExAC: 19:1398999 C / G
• gnomAD v2: 19-1398999-C-G
• gnomAD v4: 19-1399000-C-G
• MyVariant Identifiers: chr19:g.1398999C>G (hg19) ; chr19:g.1399000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399000C>G , CM000681.2:g.1399000C>G	GRCh38
NC_000019.9:g.1398999C>G , CM000681.1:g.1398999C>G	GRCh37
NC_000019.8:g.1349999C>G	NCBI36
NG_009785.1:g.7554G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.486G>C MANE Select	ENSP00000252288.1:p.Pro162=
ENST00000447102.8:c.486G>C	ENSP00000403536.2:p.Pro162=
ENST00000591788.3:c.169G>C
ENST00000640164.1:n.319G>C
ENST00000640762.1:c.417G>C	ENSP00000492031.1:p.Pro139=
ENST00000252288.6:c.486G>C	ENSP00000252288.1:p.Pro162=
ENST00000447102.7:c.486G>C	ENSP00000403536.2:p.Pro162=
ENST00000591788.2:c.171G>C	ENSP00000466341.2:p.Pro57=
NM_000156.5:c.486G>C	NP_000147.1:p.Pro162=
NM_138924.2:c.486G>C	NP_620279.1:p.Pro162=
NM_000156.6:c.486G>C MANE Select	NP_000147.1:p.Pro162=
NM_138924.3:c.486G>C	NP_620279.1:p.Pro162=