Canonical Allele Identifier: CA402998398
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 1462940
ClinVar RCV Id: RCV001960804
dbSNP Id: rs1600160699
gnomAD v3: 19-1401439-C-G
gnomAD v4: 19-1401439-C-G
MyVariant Identifiers: chr19:g.1401438C>G (hg19) chr19:g.1401439C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401439C>G , CM000681.2:g.1401439C>G GRCh38
NC_000019.9:g.1401438C>G , CM000681.1:g.1401438C>G GRCh37
NC_000019.8:g.1352438C>G NCBI36
NG_009785.1:g.5115G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.38G>C MANE Select ENSP00000252288.1:p.Gly13Ala
ENST00000447102.8:c.38G>C ENSP00000403536.2:p.Gly13Ala
ENST00000640762.1:c.38G>C ENSP00000492031.1:p.Gly13Ala
ENST00000252288.6:c.38G>C ENSP00000252288.1:p.Gly13Ala
ENST00000447102.7:c.38G>C ENSP00000403536.2:p.Gly13Ala
NM_000156.5:c.38G>C NP_000147.1:p.Gly13Ala
NM_138924.2:c.38G>C NP_620279.1:p.Gly13Ala
NM_000156.6:c.38G>C MANE Select NP_000147.1:p.Gly13Ala
NM_138924.3:c.38G>C NP_620279.1:p.Gly13Ala
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