Canonical Allele Identifier: CA340769
Gene: GAMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8303
ClinVar RCV Id: RCV000008801
dbSNP Id: rs80338734

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401418C>G , CM000681.2:g.1401418C>G GRCh38
NC_000019.9:g.1401417C>G , CM000681.1:g.1401417C>G GRCh37
NC_000019.8:g.1352417C>G NCBI36
NG_009785.1:g.5136G>C

Transcript Alleles

HGVS Amino-acid change
NM_000156.5:c.59G>C VV NP_000147.1:p.Trp20Ser
NM_138924.2:c.59G>C VV NP_620279.1:p.Trp20Ser
ENST00000252288.6:c.59G>C ENSP00000252288.1:p.Trp20Ser
ENST00000447102.7:c.59G>C ENSP00000403536.2:p.Trp20Ser