Canonical Allele Identifier: CA587568147
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1472054363
gnomAD v2: 9-34647027-G-A
gnomAD v3: 9-34647030-G-A
gnomAD v4: 9-34647030-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647030G>A , CM000671.2:g.34647030G>A GRCh38
NC_000009.11:g.34647027G>A , CM000671.1:g.34647027G>A GRCh37
NC_000009.10:g.34637027G>A NCBI36
NG_009029.1:g.5393G>A
NG_009029.2:g.5442G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.83-59G>A ENSP00000509954.1:n.83-59G>A
ENST00000378842.8:c.83-59G>A MANE Select ENSP00000368119.4:n.83-59G>A
ENST00000378842.7:c.83-59G>A ENSP00000368119.3:n.83-59G>A
ENST00000450095.6:c.-120-59G>A ENSP00000401956.2:n.-120-59G>A
ENST00000465543.6:n.363G>A
ENST00000468099.2:n.155-91G>A
ENST00000472111.5:n.124-59G>A
ENST00000473506.6:c.83-59G>A ENSP00000432839.2:n.83-59G>A
ENST00000473529.5:n.130-59G>A
ENST00000485531.1:n.76-59G>A
ENST00000487381.5:n.109-59G>A
ENST00000489643.6:n.113-59G>A
ENST00000554085.5:c.83-59G>A ENSP00000450419.1:n.83-59G>A
ENST00000554139.5:n.136-59G>A
ENST00000554330.5:n.80-59G>A
ENST00000554550.5:c.83-59G>A ENSP00000451435.1:n.83-59G>A
ENST00000554638.5:n.107-59G>A
ENST00000554897.5:c.83-59G>A ENSP00000450942.1:n.83-59G>A
ENST00000554944.5:n.113-59G>A
ENST00000555020.5:n.113-59G>A
ENST00000555086.5:n.87-59G>A
ENST00000555214.5:n.92-59G>A
ENST00000556157.1:n.131G>A
ENST00000556278.1:c.83-59G>A ENSP00000451792.1:n.83-59G>A
ENST00000556403.5:n.96-59G>A
ENST00000556494.5:n.115-59G>A
ENST00000557541.5:n.276-59G>A
ENST00000557706.5:n.138G>A
ENST00000605275.1:n.562G>A
NM_000155.3:c.83-59G>A NP_000146.2:n.83-59G>A
NM_001258332.1:c.-120-59G>A NP_001245261.1:n.-120-59G>A
NM_000155.4:c.83-59G>A MANE Select NP_000146.2:n.83-59G>A
NM_001258332.2:c.-120-59G>A NP_001245261.1:n.-120-59G>A