Canonical Allele Identifier: CA402998301
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1401413-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401413C>A , CM000681.2:g.1401413C>A GRCh38
NC_000019.9:g.1401412C>A , CM000681.1:g.1401412C>A GRCh37
NC_000019.8:g.1352412C>A NCBI36
NG_009785.1:g.5141G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.64G>T MANE Select ENSP00000252288.1:p.Ala22Ser
ENST00000447102.8:c.64G>T ENSP00000403536.2:p.Ala22Ser
ENST00000640762.1:c.64G>T ENSP00000492031.1:p.Ala22Ser
ENST00000252288.6:c.64G>T ENSP00000252288.1:p.Ala22Ser
ENST00000447102.7:c.64G>T ENSP00000403536.2:p.Ala22Ser
NM_000156.5:c.64G>T NP_000147.1:p.Ala22Ser
NM_138924.2:c.64G>T NP_620279.1:p.Ala22Ser
NM_000156.6:c.64G>T MANE Select NP_000147.1:p.Ala22Ser
NM_138924.3:c.64G>T NP_620279.1:p.Ala22Ser