Canonical Allele Identifier: CA587243221
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 1331458
ClinVar RCV Id: RCV001806802
dbSNP Id: rs549043849

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34645868dup , CM000671.2:g.34645868dup GRCh38
NC_000009.11:g.34645865dup , CM000671.1:g.34645865dup GRCh37
NC_000009.10:g.34635865dup NCBI36
NG_009029.1:g.4231dup
NG_009029.2:g.4280dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000605275.1:n.209-809dup