Canonical Allele Identifier: CA373282208
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648415C>G , CM000671.2:g.34648415C>G GRCh38
NC_000009.11:g.34648412C>G , CM000671.1:g.34648412C>G GRCh37
NC_000009.10:g.34638412C>G NCBI36
NG_009029.1:g.6778C>G
NG_028966.1:g.1231C>G
NG_009029.2:g.6827C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*234C>G ENSP00000509954.1:n.*234C>G
ENST00000378842.8:c.646C>G MANE Select ENSP00000368119.4:p.Pro216Ala
ENST00000378842.7:c.646C>G ENSP00000368119.3:p.Pro216Ala
ENST00000450095.6:c.319C>G ENSP00000401956.2:p.Pro107Ala
ENST00000472111.5:n.902C>G
ENST00000473506.6:c.*234C>G ENSP00000432839.2:n.*234C>G
ENST00000473529.5:n.805C>G
ENST00000487381.5:n.1031C>G
ENST00000489643.6:n.421C>G
ENST00000554085.5:c.*390C>G ENSP00000450419.1:n.*390C>G
ENST00000554550.5:c.*266C>G ENSP00000451435.1:n.*266C>G
ENST00000554638.5:n.1118C>G
ENST00000555020.5:n.802C>G
ENST00000555086.5:n.650C>G
ENST00000555214.5:n.467C>G
ENST00000556244.1:c.633C>G
ENST00000556278.1:c.391C>G ENSP00000451792.1:p.Pro131Ala
ENST00000556494.5:n.767C>G
ENST00000557706.5:n.1208C>G
NM_000155.3:c.646C>G NP_000146.2:p.Pro216Ala
NM_001258332.1:c.319C>G NP_001245261.1:p.Pro107Ala
NM_000155.4:c.646C>G MANE Select NP_000146.2:p.Pro216Ala
NM_001258332.2:c.319C>G NP_001245261.1:p.Pro107Ala