Canonical Allele Identifier: CA9043793
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 544255
ClinVar RCV Id: RCV002060782
dbSNP Id: rs575350720
ExAC: 19:1401309 G / A
gnomAD v2: 19-1401309-G-A
gnomAD v3: 19-1401310-G-A
gnomAD v4: 19-1401310-G-A
MyVariant Identifiers: chr19:g.1401309G>A (hg19) chr19:g.1401310G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401310G>A , CM000681.2:g.1401310G>A GRCh38
NC_000019.9:g.1401309G>A , CM000681.1:g.1401309G>A GRCh37
NC_000019.8:g.1352309G>A NCBI36
NG_009785.1:g.5244C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.167C>T MANE Select ENSP00000252288.1:p.Ala56Val
ENST00000447102.8:c.167C>T ENSP00000403536.2:p.Ala56Val
ENST00000640762.1:c.112+55C>T ENSP00000492031.1:n.112+55C>T
ENST00000252288.6:c.167C>T ENSP00000252288.1:p.Ala56Val
ENST00000447102.7:c.167C>T ENSP00000403536.2:p.Ala56Val
NM_000156.5:c.167C>T NP_000147.1:p.Ala56Val
NM_138924.2:c.167C>T NP_620279.1:p.Ala56Val
NM_000156.6:c.167C>T MANE Select NP_000147.1:p.Ala56Val
NM_138924.3:c.167C>T NP_620279.1:p.Ala56Val
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