Canonical Allele Identifier: CA314802
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205579
dbSNP Id: rs552210450
gnomAD v2: 19-1399821-G-A
gnomAD v3: 19-1399822-G-A
gnomAD v4: 19-1399822-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399822G>A , CM000681.2:g.1399822G>A GRCh38
NC_000019.9:g.1399821G>A , CM000681.1:g.1399821G>A GRCh37
NC_000019.8:g.1350821G>A NCBI36
NG_009785.1:g.6732C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.298C>T MANE Select ENSP00000252288.1:p.Arg100Trp
ENST00000447102.8:c.298C>T ENSP00000403536.2:p.Arg100Trp
ENST00000640762.1:c.229C>T ENSP00000492031.1:p.Arg77Trp
ENST00000252288.6:c.298C>T ENSP00000252288.1:p.Arg100Trp
ENST00000447102.7:c.298C>T ENSP00000403536.2:p.Arg100Trp
NM_000156.5:c.298C>T NP_000147.1:p.Arg100Trp
NM_138924.2:c.298C>T NP_620279.1:p.Arg100Trp
NM_000156.6:c.298C>T MANE Select NP_000147.1:p.Arg100Trp
NM_138924.3:c.298C>T NP_620279.1:p.Arg100Trp