Canonical Allele Identifier: CA863494794
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs1452871195
gnomAD v3: 9-34647345-A-G
gnomAD v4: 9-34647345-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647345A>G , CM000671.2:g.34647345A>G GRCh38
NC_000009.11:g.34647342A>G , CM000671.1:g.34647342A>G GRCh37
NC_000009.10:g.34637342A>G NCBI36
NG_009029.1:g.5708A>G
NG_028966.1:g.161A>G
NG_009029.2:g.5757A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.252+87A>G ENSP00000509954.1:n.252+87A>G
ENST00000378842.8:c.252+87A>G MANE Select ENSP00000368119.4:n.252+87A>G
ENST00000378842.7:c.252+87A>G ENSP00000368119.3:n.252+87A>G
ENST00000450095.6:c.50+87A>G ENSP00000401956.2:n.50+87A>G
ENST00000465543.6:n.591+87A>G
ENST00000468099.2:n.379A>G
ENST00000472111.5:n.293+87A>G
ENST00000473506.6:c.252+87A>G ENSP00000432839.2:n.252+87A>G
ENST00000473529.5:n.299+87A>G
ENST00000485531.1:n.332A>G
ENST00000487381.5:n.365A>G
ENST00000489643.6:n.282+87A>G
ENST00000554085.5:c.252+87A>G ENSP00000450419.1:n.252+87A>G
ENST00000554139.5:n.305+87A>G
ENST00000554330.5:n.249+87A>G
ENST00000554550.5:c.252+87A>G ENSP00000451435.1:n.252+87A>G
ENST00000554638.5:n.363A>G
ENST00000554897.5:c.252+87A>G ENSP00000450942.1:n.252+87A>G
ENST00000554944.5:n.282+87A>G
ENST00000555020.5:n.282+87A>G
ENST00000555086.5:n.256+87A>G
ENST00000555214.5:n.261+87A>G
ENST00000556157.1:n.359+87A>G
ENST00000556244.1:c.137-44A>G
ENST00000556278.1:c.252+87A>G ENSP00000451792.1:n.252+87A>G
ENST00000556403.5:n.265+87A>G
ENST00000556494.5:n.284+87A>G
ENST00000557541.5:n.445+87A>G
ENST00000557706.5:n.453A>G
NM_000155.3:c.252+87A>G NP_000146.2:n.252+87A>G
NM_001258332.1:c.50+87A>G NP_001245261.1:n.50+87A>G
NM_000155.4:c.252+87A>G MANE Select NP_000146.2:n.252+87A>G
NM_001258332.2:c.50+87A>G NP_001245261.1:n.50+87A>G