Canonical Allele Identifier: CA402995240
Gene: GAMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399165T>C , CM000681.2:g.1399165T>C GRCh38
NC_000019.9:g.1399164T>C , CM000681.1:g.1399164T>C GRCh37
NC_000019.8:g.1350164T>C NCBI36
NG_009785.1:g.7389A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.422A>G MANE Select ENSP00000252288.1:p.Glu141Gly
ENST00000447102.8:c.422A>G ENSP00000403536.2:p.Glu141Gly
ENST00000591788.3:c.105A>G
ENST00000640164.1:n.255A>G
ENST00000640762.1:c.353A>G ENSP00000492031.1:p.Glu118Gly
ENST00000252288.6:c.422A>G ENSP00000252288.1:p.Glu141Gly
ENST00000447102.7:c.422A>G ENSP00000403536.2:p.Glu141Gly
ENST00000591788.2:c.107A>G ENSP00000466341.2:p.Glu36Gly
NM_000156.5:c.422A>G NP_000147.1:p.Glu141Gly
NM_138924.2:c.422A>G NP_620279.1:p.Glu141Gly
NM_000156.6:c.422A>G MANE Select NP_000147.1:p.Glu141Gly
NM_138924.3:c.422A>G NP_620279.1:p.Glu141Gly