Canonical Allele Identifier: CA192666805
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs556696323
gnomAD v2: 9-34646503-T-C
gnomAD v3: 9-34646506-T-C
gnomAD v4: 9-34646506-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646506T>C , CM000671.2:g.34646506T>C GRCh38
NC_000009.11:g.34646503T>C , CM000671.1:g.34646503T>C GRCh37
NC_000009.10:g.34636503T>C NCBI36
NG_009029.1:g.4869T>C
NG_009029.2:g.4918T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000605275.1:n.209-171T>C