Canonical Allele Identifier: CA312567
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25231
dbSNP Id: rs111033744
gnomAD v2: 9-34648392-A-G
gnomAD v3: 9-34648395-A-G
gnomAD v4: 9-34648395-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648395A>G , CM000671.2:g.34648395A>G GRCh38
NC_000009.11:g.34648392A>G , CM000671.1:g.34648392A>G GRCh37
NC_000009.10:g.34638392A>G NCBI36
NG_009029.1:g.6758A>G
NG_028966.1:g.1211A>G
NG_009029.2:g.6807A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*214A>G ENSP00000509954.1:n.*214A>G
ENST00000378842.8:c.626A>G MANE Select ENSP00000368119.4:p.Tyr209Cys
ENST00000378842.7:c.626A>G ENSP00000368119.3:p.Tyr209Cys
ENST00000450095.6:c.299A>G ENSP00000401956.2:p.Tyr100Cys
ENST00000472111.5:n.882A>G
ENST00000473506.6:c.*214A>G ENSP00000432839.2:n.*214A>G
ENST00000473529.5:n.785A>G
ENST00000487381.5:n.1011A>G
ENST00000489643.6:n.401A>G
ENST00000554085.5:c.*370A>G ENSP00000450419.1:n.*370A>G
ENST00000554550.5:c.*246A>G ENSP00000451435.1:n.*246A>G
ENST00000554638.5:n.1098A>G
ENST00000555020.5:n.782A>G
ENST00000555086.5:n.630A>G
ENST00000555214.5:n.447A>G
ENST00000556244.1:c.613A>G
ENST00000556278.1:c.371A>G ENSP00000451792.1:p.Tyr124Cys
ENST00000556494.5:n.747A>G
ENST00000557706.5:n.1188A>G
NM_000155.3:c.626A>G NP_000146.2:p.Tyr209Cys
NM_001258332.1:c.299A>G NP_001245261.1:p.Tyr100Cys
NM_000155.4:c.626A>G MANE Select NP_000146.2:p.Tyr209Cys
NM_001258332.2:c.299A>G NP_001245261.1:p.Tyr100Cys