Canonical Allele Identifier: CA2576548735
Gene: GAMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399952G>A , CM000681.2:g.1399952G>A GRCh38
NC_000019.9:g.1399951G>A , CM000681.1:g.1399951G>A GRCh37
NC_000019.8:g.1350951G>A NCBI36
NG_009785.1:g.6602C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.182-14C>T MANE Select ENSP00000252288.1:n.182-14C>T
ENST00000447102.8:c.182-14C>T ENSP00000403536.2:n.182-14C>T
ENST00000640762.1:c.113-14C>T ENSP00000492031.1:n.113-14C>T
ENST00000252288.6:c.182-14C>T ENSP00000252288.1:n.182-14C>T
ENST00000447102.7:c.182-14C>T ENSP00000403536.2:n.182-14C>T
NM_000156.5:c.182-14C>T NP_000147.1:n.182-14C>T
NM_138924.2:c.182-14C>T NP_620279.1:n.182-14C>T
NM_000156.6:c.182-14C>T MANE Select NP_000147.1:n.182-14C>T
NM_138924.3:c.182-14C>T NP_620279.1:n.182-14C>T