Canonical Allele Identifier: CA192668910
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs553686923
gnomAD v3: 9-34646631-G-A
gnomAD v4: 9-34646631-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646631G>A , CM000671.2:g.34646631G>A GRCh38
NC_000009.11:g.34646628G>A , CM000671.1:g.34646628G>A GRCh37
NC_000009.10:g.34636628G>A NCBI36
NG_009029.1:g.4994G>A
NG_009029.2:g.5043G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.-74G>A ENSP00000509954.1:n.-74G>A
ENST00000450095.6:c.-276G>A ENSP00000401956.2:n.-276G>A
ENST00000605275.1:n.209-46G>A
NM_000155.3:c.-74G>A NP_000146.2:n.-74G>A
NM_001258332.1:c.-276G>A NP_001245261.1:n.-276G>A