Canonical Allele Identifier: CA587243201
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1202967027
gnomAD v2: 9-34645615-C-T
gnomAD v3: 9-34645618-C-T
gnomAD v4: 9-34645618-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34645618C>T , CM000671.2:g.34645618C>T GRCh38
NC_000009.11:g.34645615C>T , CM000671.1:g.34645615C>T GRCh37
NC_000009.10:g.34635615C>T NCBI36
NG_009029.1:g.3981C>T
NG_009029.2:g.4030C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000605275.1:n.209-1059C>T