Canonical Allele Identifier: CA2582641201
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399378-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399378C>G , CM000681.2:g.1399378C>G GRCh38
NC_000019.9:g.1399377C>G , CM000681.1:g.1399377C>G GRCh37
NC_000019.8:g.1350377C>G NCBI36
NG_009785.1:g.7176G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.391+146G>C MANE Select ENSP00000252288.1:n.391+146G>C
ENST00000447102.8:c.391+146G>C ENSP00000403536.2:n.391+146G>C
ENST00000591788.3:c.74+146G>C
ENST00000640164.1:n.224+146G>C
ENST00000640762.1:c.322+146G>C ENSP00000492031.1:n.322+146G>C
ENST00000252288.6:c.391+146G>C ENSP00000252288.1:n.391+146G>C
ENST00000447102.7:c.391+146G>C ENSP00000403536.2:n.391+146G>C
ENST00000591788.2:c.76+146G>C ENSP00000466341.2:n.76+146G>C
NM_000156.5:c.391+146G>C NP_000147.1:n.391+146G>C
NM_138924.2:c.391+146G>C NP_620279.1:n.391+146G>C
NM_000156.6:c.391+146G>C MANE Select NP_000147.1:n.391+146G>C
NM_138924.3:c.391+146G>C NP_620279.1:n.391+146G>C
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