Canonical Allele Identifier: CA402995310
Gene: GAMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399175G>C , CM000681.2:g.1399175G>C GRCh38
NC_000019.9:g.1399174G>C , CM000681.1:g.1399174G>C GRCh37
NC_000019.8:g.1350174G>C NCBI36
NG_009785.1:g.7379C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.412C>G MANE Select ENSP00000252288.1:p.Pro138Ala
ENST00000447102.8:c.412C>G ENSP00000403536.2:p.Pro138Ala
ENST00000591788.3:c.95C>G
ENST00000640164.1:n.245C>G
ENST00000640762.1:c.343C>G ENSP00000492031.1:p.Pro115Ala
ENST00000252288.6:c.412C>G ENSP00000252288.1:p.Pro138Ala
ENST00000447102.7:c.412C>G ENSP00000403536.2:p.Pro138Ala
ENST00000591788.2:c.97C>G ENSP00000466341.2:p.Pro33Ala
NM_000156.5:c.412C>G NP_000147.1:p.Pro138Ala
NM_138924.2:c.412C>G NP_620279.1:p.Pro138Ala
NM_000156.6:c.412C>G MANE Select NP_000147.1:p.Pro138Ala
NM_138924.3:c.412C>G NP_620279.1:p.Pro138Ala