Canonical Allele Identifier: CA373281977
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648367C>G , CM000671.2:g.34648367C>G GRCh38
NC_000009.11:g.34648364C>G , CM000671.1:g.34648364C>G GRCh37
NC_000009.10:g.34638364C>G NCBI36
NG_009029.1:g.6730C>G
NG_028966.1:g.1183C>G
NG_009029.2:g.6779C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*186C>G ENSP00000509954.1:n.*186C>G
ENST00000378842.8:c.598C>G MANE Select ENSP00000368119.4:p.Gln200Glu
ENST00000378842.7:c.598C>G ENSP00000368119.3:p.Gln200Glu
ENST00000450095.6:c.271C>G ENSP00000401956.2:p.Gln91Glu
ENST00000472111.5:n.854C>G
ENST00000473506.6:c.*186C>G ENSP00000432839.2:n.*186C>G
ENST00000473529.5:n.757C>G
ENST00000485531.1:n.1192C>G
ENST00000487381.5:n.983C>G
ENST00000489643.6:n.373C>G
ENST00000554085.5:c.*342C>G ENSP00000450419.1:n.*342C>G
ENST00000554139.5:n.844C>G
ENST00000554550.5:c.*218C>G ENSP00000451435.1:n.*218C>G
ENST00000554638.5:n.1070C>G
ENST00000554897.5:c.*285C>G ENSP00000450942.1:n.*285C>G
ENST00000554944.5:n.947C>G
ENST00000555020.5:n.754C>G
ENST00000555086.5:n.602C>G
ENST00000555214.5:n.419C>G
ENST00000556244.1:c.585C>G
ENST00000556278.1:c.343C>G ENSP00000451792.1:p.Gln115Glu
ENST00000556494.5:n.719C>G
ENST00000557706.5:n.1160C>G
NM_000155.3:c.598C>G NP_000146.2:p.Gln200Glu
NM_001258332.1:c.271C>G NP_001245261.1:p.Gln91Glu
NM_000155.4:c.598C>G MANE Select NP_000146.2:p.Gln200Glu
NM_001258332.2:c.271C>G NP_001245261.1:p.Gln91Glu