Canonical Allele Identifier: CA402994963
Gene: GAMT HGNC NCBI

Linked Data

gnomAD v4: 19-1399136-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399136A>C , CM000681.2:g.1399136A>C GRCh38
NC_000019.9:g.1399135A>C , CM000681.1:g.1399135A>C GRCh37
NC_000019.8:g.1350135A>C NCBI36
NG_009785.1:g.7418T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.451T>G MANE Select ENSP00000252288.1:p.Phe151Val
ENST00000447102.8:c.451T>G ENSP00000403536.2:p.Phe151Val
ENST00000591788.3:c.134T>G
ENST00000640164.1:n.284T>G
ENST00000640762.1:c.382T>G ENSP00000492031.1:p.Phe128Val
ENST00000252288.6:c.451T>G ENSP00000252288.1:p.Phe151Val
ENST00000447102.7:c.451T>G ENSP00000403536.2:p.Phe151Val
ENST00000591788.2:c.136T>G ENSP00000466341.2:p.Phe46Val
NM_000156.5:c.451T>G NP_000147.1:p.Phe151Val
NM_138924.2:c.451T>G NP_620279.1:p.Phe151Val
NM_000156.6:c.451T>G MANE Select NP_000147.1:p.Phe151Val
NM_138924.3:c.451T>G NP_620279.1:p.Phe151Val