Canonical Allele Identifier: CA192668892
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 913654
ClinVar RCV Id: RCV001167405
dbSNP Id: rs144505931
gnomAD v2: 9-34646614-G-A
gnomAD v3: 9-34646617-G-A
gnomAD v4: 9-34646617-G-A
MyVariant Identifiers: chr9:g.34646614G>A (hg19) chr9:g.34646617G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646617G>A , CM000671.2:g.34646617G>A GRCh38
NC_000009.11:g.34646614G>A , CM000671.1:g.34646614G>A GRCh37
NC_000009.10:g.34636614G>A NCBI36
NG_009029.1:g.4980G>A
NG_009029.2:g.5029G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450095.6:c.-290G>A ENSP00000401956.2:n.-290G>A
ENST00000605275.1:n.209-60G>A
NM_000155.3:c.-88G>A NP_000146.2:n.-88G>A
NM_001258332.1:c.-290G>A NP_001245261.1:n.-290G>A
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