Canonical Allele Identifier: CA259324
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25125
ClinVar RCV Id: RCV000022052 RCV000726020
dbSNP Id: rs111033836
gnomAD v4: 9-34647106-T-A
MyVariant Identifiers: chr9:g.34647103T>A (hg19) chr9:g.34647106T>A (hg38)
PubMed: PMID:23891399 PMID:25592817
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647106T>A , CM000671.2:g.34647106T>A GRCh38
NC_000009.11:g.34647103T>A , CM000671.1:g.34647103T>A GRCh37
NC_000009.10:g.34637103T>A NCBI36
NG_009029.1:g.5469T>A
NG_009029.2:g.5518T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.100T>A ENSP00000509954.1:p.Tyr34Asn
ENST00000378842.8:c.100T>A MANE Select ENSP00000368119.4:p.Tyr34Asn
ENST00000378842.7:c.100T>A ENSP00000368119.3:p.Tyr34Asn
ENST00000450095.6:c.-103T>A ENSP00000401956.2:n.-103T>A
ENST00000465543.6:n.439T>A
ENST00000468099.2:n.155-15T>A
ENST00000472111.5:n.141T>A
ENST00000473506.6:c.100T>A ENSP00000432839.2:p.Tyr34Asn
ENST00000473529.5:n.147T>A
ENST00000485531.1:n.93T>A
ENST00000487381.5:n.126T>A
ENST00000489643.6:n.130T>A
ENST00000554085.5:c.100T>A ENSP00000450419.1:p.Tyr34Asn
ENST00000554139.5:n.153T>A
ENST00000554330.5:n.97T>A
ENST00000554550.5:c.100T>A ENSP00000451435.1:p.Tyr34Asn
ENST00000554638.5:n.124T>A
ENST00000554897.5:c.100T>A ENSP00000450942.1:p.Tyr34Asn
ENST00000554944.5:n.130T>A
ENST00000555020.5:n.130T>A
ENST00000555086.5:n.104T>A
ENST00000555214.5:n.109T>A
ENST00000556157.1:n.207T>A
ENST00000556278.1:c.100T>A ENSP00000451792.1:p.Tyr34Asn
ENST00000556403.5:n.113T>A
ENST00000556494.5:n.132T>A
ENST00000557541.5:n.293T>A
ENST00000557706.5:n.214T>A
ENST00000605275.1:n.638T>A
NM_000155.3:c.100T>A NP_000146.2:p.Tyr34Asn
NM_001258332.1:c.-103T>A NP_001245261.1:n.-103T>A
NM_000155.4:c.100T>A MANE Select NP_000146.2:p.Tyr34Asn
NM_001258332.2:c.-103T>A NP_001245261.1:n.-103T>A
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