Canonical Allele Identifier: CA863493822
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1346924586
gnomAD v3: 9-34646612-T-C
gnomAD v4: 9-34646612-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646612T>C , CM000671.2:g.34646612T>C GRCh38
NC_000009.11:g.34646609T>C , CM000671.1:g.34646609T>C GRCh37
NC_000009.10:g.34636609T>C NCBI36
NG_009029.1:g.4975T>C
NG_009029.2:g.5024T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450095.6:c.-295T>C ENSP00000401956.2:n.-295T>C
ENST00000605275.1:n.209-65T>C
NM_000155.3:c.-93T>C NP_000146.2:n.-93T>C
NM_001258332.1:c.-295T>C NP_001245261.1:n.-295T>C