Canonical Allele Identifier: CA373282103
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648396T>G , CM000671.2:g.34648396T>G GRCh38
NC_000009.11:g.34648393T>G , CM000671.1:g.34648393T>G GRCh37
NC_000009.10:g.34638393T>G NCBI36
NG_009029.1:g.6759T>G
NG_028966.1:g.1212T>G
NG_009029.2:g.6808T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*215T>G ENSP00000509954.1:n.*215T>G
ENST00000378842.8:c.627T>G MANE Select ENSP00000368119.4:p.Tyr209Ter
ENST00000378842.7:c.627T>G ENSP00000368119.3:p.Tyr209Ter
ENST00000450095.6:c.300T>G ENSP00000401956.2:p.Tyr100Ter
ENST00000472111.5:n.883T>G
ENST00000473506.6:c.*215T>G ENSP00000432839.2:n.*215T>G
ENST00000473529.5:n.786T>G
ENST00000487381.5:n.1012T>G
ENST00000489643.6:n.402T>G
ENST00000554085.5:c.*371T>G ENSP00000450419.1:n.*371T>G
ENST00000554550.5:c.*247T>G ENSP00000451435.1:n.*247T>G
ENST00000554638.5:n.1099T>G
ENST00000555020.5:n.783T>G
ENST00000555086.5:n.631T>G
ENST00000555214.5:n.448T>G
ENST00000556244.1:c.614T>G
ENST00000556278.1:c.372T>G ENSP00000451792.1:p.Tyr124Ter
ENST00000556494.5:n.748T>G
ENST00000557706.5:n.1189T>G
NM_000155.3:c.627T>G NP_000146.2:p.Tyr209Ter
NM_001258332.1:c.300T>G NP_001245261.1:p.Tyr100Ter
NM_000155.4:c.627T>G MANE Select NP_000146.2:p.Tyr209Ter
NM_001258332.2:c.300T>G NP_001245261.1:p.Tyr100Ter