Canonical Allele Identifier: CA658822587
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 555856
ClinVar RCV Id: RCV000671764
dbSNP Id: rs1554709099
gnomAD v4: 9-34646609-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646609T>G , CM000671.2:g.34646609T>G GRCh38
NC_000009.11:g.34646606T>G , CM000671.1:g.34646606T>G GRCh37
NC_000009.10:g.34636606T>G NCBI36
NG_009029.1:g.4972T>G
NG_009029.2:g.5021T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450095.6:c.-298T>G ENSP00000401956.2:n.-298T>G
ENST00000605275.1:n.209-68T>G
NM_000155.3:c.-96T>G NP_000146.2:n.-96T>G
NM_001258332.1:c.-298T>G NP_001245261.1:n.-298T>G