Canonical Allele Identifier: CA5035974
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs757545379
gnomAD v2: 9-34646667-C-A
gnomAD v4: 9-34646670-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646670C>A , CM000671.2:g.34646670C>A GRCh38
NC_000009.11:g.34646667C>A , CM000671.1:g.34646667C>A GRCh37
NC_000009.10:g.34636667C>A NCBI36
NG_009029.1:g.5033C>A
NG_009029.2:g.5082C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.-35C>A ENSP00000509954.1:n.-35C>A
ENST00000378842.7:c.-35C>A ENSP00000368119.3:n.-35C>A
ENST00000450095.6:c.-237C>A ENSP00000401956.2:n.-237C>A
ENST00000465543.6:n.3C>A
ENST00000468099.2:n.38C>A
ENST00000472111.5:n.7C>A
ENST00000473506.6:c.-35C>A ENSP00000432839.2:n.-35C>A
ENST00000473529.5:n.13C>A
ENST00000554139.5:n.19C>A
ENST00000554550.5:c.-35C>A ENSP00000451435.1:n.-35C>A
ENST00000556278.1:c.-35C>A ENSP00000451792.1:n.-35C>A
ENST00000557541.5:n.26C>A
ENST00000605275.1:n.209-7C>A
NM_000155.3:c.-35C>A NP_000146.2:n.-35C>A
NM_001258332.1:c.-237C>A NP_001245261.1:n.-237C>A