Canonical Allele Identifier: CA259373
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 2136755
ClinVar RCV Id: RCV003062203
dbSNP Id: rs111033675
gnomAD v2: 9-34647693-G-A
gnomAD v3: 9-34647696-G-A
gnomAD v4: 9-34647696-G-A
MyVariant Identifiers: chr9:g.34647693G>A (hg19) chr9:g.34647696G>A (hg38)
PubMed: PMID:11261429
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647696G>A , CM000671.2:g.34647696G>A GRCh38
NC_000009.11:g.34647693G>A , CM000671.1:g.34647693G>A GRCh37
NC_000009.10:g.34637693G>A NCBI36
NG_009029.1:g.6059G>A
NG_028966.1:g.512G>A
NG_009029.2:g.6108G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+129G>A ENSP00000509954.1:n.328+129G>A
ENST00000378842.8:c.368G>A MANE Select ENSP00000368119.4:p.Arg123Gln
ENST00000378842.7:c.368G>A ENSP00000368119.3:p.Arg123Gln
ENST00000450095.6:c.51-136G>A ENSP00000401956.2:n.51-136G>A
ENST00000465543.6:n.707G>A
ENST00000472111.5:n.498G>A
ENST00000473506.6:c.319G>A ENSP00000432839.2:p.Glu107Lys
ENST00000473529.5:n.504G>A
ENST00000485531.1:n.683G>A
ENST00000487381.5:n.627G>A
ENST00000489643.6:n.283-419G>A
ENST00000554085.5:c.*112G>A ENSP00000450419.1:n.*112G>A
ENST00000554139.5:n.421G>A
ENST00000554330.5:n.405G>A
ENST00000554550.5:c.253-136G>A ENSP00000451435.1:n.253-136G>A
ENST00000554638.5:n.714G>A
ENST00000554897.5:c.253-136G>A ENSP00000450942.1:n.253-136G>A
ENST00000554944.5:n.438G>A
ENST00000555020.5:n.398G>A
ENST00000555086.5:n.372G>A
ENST00000555214.5:n.262-352G>A
ENST00000556157.1:n.492G>A
ENST00000556244.1:c.355G>A
ENST00000556278.1:c.253-419G>A ENSP00000451792.1:n.253-419G>A
ENST00000556403.5:n.470G>A
ENST00000556494.5:n.489G>A
ENST00000557541.5:n.512G>A
ENST00000557706.5:n.804G>A
NM_000155.3:c.368G>A NP_000146.2:p.Arg123Gln
NM_001258332.1:c.51-136G>A NP_001245261.1:n.51-136G>A
NM_000155.4:c.368G>A MANE Select NP_000146.2:p.Arg123Gln
NM_001258332.2:c.51-136G>A NP_001245261.1:n.51-136G>A
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