Canonical Allele Identifier: CA9043767

Gene: GAMT

Linked Data

• ClinVar Variation Id: 288963
• ClinVar RCV Id: RCV000329271 ; RCV000406805 ; RCV000726258 ; RCV001086826 ; RCV002314028
• dbSNP Id: rs568392459
• ExAC: 19:1399930 C / G
• gnomAD v2: 19-1399930-C-G
• gnomAD v3: 19-1399931-C-G
• gnomAD v4: 19-1399931-C-G
• MyVariant Identifiers: chr19:g.1399930C>G (hg19) ; chr19:g.1399931C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399931C>G , CM000681.2:g.1399931C>G	GRCh38
NC_000019.9:g.1399930C>G , CM000681.1:g.1399930C>G	GRCh37
NC_000019.8:g.1350930C>G	NCBI36
NG_009785.1:g.6623G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.189G>C MANE Select	ENSP00000252288.1:p.Arg63=
ENST00000447102.8:c.189G>C	ENSP00000403536.2:p.Arg63=
ENST00000640762.1:c.120G>C	ENSP00000492031.1:p.Arg40=
ENST00000252288.6:c.189G>C	ENSP00000252288.1:p.Arg63=
ENST00000447102.7:c.189G>C	ENSP00000403536.2:p.Arg63=
NM_000156.5:c.189G>C	NP_000147.1:p.Arg63=
NM_138924.2:c.189G>C	NP_620279.1:p.Arg63=
NM_000156.6:c.189G>C MANE Select	NP_000147.1:p.Arg63=
NM_138924.3:c.189G>C	NP_620279.1:p.Arg63=