Canonical Allele Identifier: CA192666817
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs939006773
gnomAD v2: 9-34646508-T-A
gnomAD v3: 9-34646511-T-A
gnomAD v4: 9-34646511-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646511T>A , CM000671.2:g.34646511T>A GRCh38
NC_000009.11:g.34646508T>A , CM000671.1:g.34646508T>A GRCh37
NC_000009.10:g.34636508T>A NCBI36
NG_009029.1:g.4874T>A
NG_009029.2:g.4923T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000605275.1:n.209-166T>A