Canonical Allele Identifier: CA2317699051
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399032G= , CM000681.2:g.1399032G= GRCh38
NC_000019.9:g.1399031G= , CM000681.1:g.1399031G= GRCh37
NC_000019.8:g.1350031G= NCBI36
NG_009785.1:g.7522C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.460-6C= MANE Select ENSP00000252288.1:n.460-6C=
ENST00000447102.8:c.460-6C= ENSP00000403536.2:n.460-6C=
ENST00000591788.3:c.143-6C=
ENST00000640164.1:n.293-6C=
ENST00000640762.1:c.391-6C= ENSP00000492031.1:n.391-6C=
ENST00000252288.6:c.460-6C= ENSP00000252288.1:n.460-6C=
ENST00000447102.7:c.460-6C= ENSP00000403536.2:n.460-6C=
ENST00000591788.2:c.145-6C= ENSP00000466341.2:n.145-6C=
NM_000156.5:c.460-6C= NP_000147.1:n.460-6C=
NM_138924.2:c.460-6C= NP_620279.1:n.460-6C=
NM_000156.6:c.460-6C= MANE Select NP_000147.1:n.460-6C=
NM_138924.3:c.460-6C= NP_620279.1:n.460-6C=