Canonical Allele Identifier: CA402998118
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 589883
ClinVar RCV Id: RCV001862077 RCV002317591
dbSNP Id: rs1569008901
gnomAD v4: 19-1401355-A-G
MyVariant Identifiers: chr19:g.1401354A>G (hg19) chr19:g.1401355A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401355A>G , CM000681.2:g.1401355A>G GRCh38
NC_000019.9:g.1401354A>G , CM000681.1:g.1401354A>G GRCh37
NC_000019.8:g.1352354A>G NCBI36
NG_009785.1:g.5199T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.122T>C MANE Select ENSP00000252288.1:p.Val41Ala
ENST00000447102.8:c.122T>C ENSP00000403536.2:p.Val41Ala
ENST00000640762.1:c.112+10T>C ENSP00000492031.1:n.112+10T>C
ENST00000252288.6:c.122T>C ENSP00000252288.1:p.Val41Ala
ENST00000447102.7:c.122T>C ENSP00000403536.2:p.Val41Ala
NM_000156.5:c.122T>C NP_000147.1:p.Val41Ala
NM_138924.2:c.122T>C NP_620279.1:p.Val41Ala
NM_000156.6:c.122T>C MANE Select NP_000147.1:p.Val41Ala
NM_138924.3:c.122T>C NP_620279.1:p.Val41Ala
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