Canonical Allele Identifier: CA504731603
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1603735
ClinVar RCV Id: RCV002147098
dbSNP Id: rs1359387431
gnomAD v4: 19-1401306-G-C
MyVariant Identifiers: chr19:g.1401305G>C (hg19) chr19:g.1401306G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401306G>C , CM000681.2:g.1401306G>C GRCh38
NC_000019.9:g.1401305G>C , CM000681.1:g.1401305G>C GRCh37
NC_000019.8:g.1352305G>C NCBI36
NG_009785.1:g.5248C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.171C>G MANE Select ENSP00000252288.1:p.Ala57=
ENST00000447102.8:c.171C>G ENSP00000403536.2:p.Ala57=
ENST00000640762.1:c.112+59C>G ENSP00000492031.1:n.112+59C>G
ENST00000252288.6:c.171C>G ENSP00000252288.1:p.Ala57=
ENST00000447102.7:c.171C>G ENSP00000403536.2:p.Ala57=
NM_000156.5:c.171C>G NP_000147.1:p.Ala57=
NM_138924.2:c.171C>G NP_620279.1:p.Ala57=
NM_000156.6:c.171C>G MANE Select NP_000147.1:p.Ala57=
NM_138924.3:c.171C>G NP_620279.1:p.Ala57=
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