Canonical Allele Identifier: CA402994930
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1257083441
gnomAD v2: 19-1399131-A-G
gnomAD v4: 19-1399132-A-G
MyVariant Identifiers: chr19:g.1399131A>G (hg19) chr19:g.1399132A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399132A>G , CM000681.2:g.1399132A>G GRCh38
NC_000019.9:g.1399131A>G , CM000681.1:g.1399131A>G GRCh37
NC_000019.8:g.1350131A>G NCBI36
NG_009785.1:g.7422T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.455T>C MANE Select ENSP00000252288.1:p.Ile152Thr
ENST00000447102.8:c.455T>C ENSP00000403536.2:p.Ile152Thr
ENST00000591788.3:c.138T>C
ENST00000640164.1:n.288T>C
ENST00000640762.1:c.386T>C ENSP00000492031.1:p.Ile129Thr
ENST00000252288.6:c.455T>C ENSP00000252288.1:p.Ile152Thr
ENST00000447102.7:c.455T>C ENSP00000403536.2:p.Ile152Thr
ENST00000591788.2:c.140T>C ENSP00000466341.2:p.Ile47Thr
NM_000156.5:c.455T>C NP_000147.1:p.Ile152Thr
NM_138924.2:c.455T>C NP_620279.1:p.Ile152Thr
NM_000156.6:c.455T>C MANE Select NP_000147.1:p.Ile152Thr
NM_138924.3:c.455T>C NP_620279.1:p.Ile152Thr
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