Canonical Allele Identifier: CA2689808711
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648239-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648239A>G , CM000671.2:g.34648239A>G GRCh38
NC_000009.11:g.34648236A>G , CM000671.1:g.34648236A>G GRCh37
NC_000009.10:g.34638236A>G NCBI36
NG_009029.1:g.6602A>G
NG_028966.1:g.1055A>G
NG_009029.2:g.6651A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*152+68A>G ENSP00000509954.1:n.*152+68A>G
ENST00000378842.8:c.564+68A>G MANE Select ENSP00000368119.4:n.564+68A>G
ENST00000378842.7:c.564+68A>G ENSP00000368119.3:n.564+68A>G
ENST00000450095.6:c.237+68A>G ENSP00000401956.2:n.237+68A>G
ENST00000472111.5:n.820+68A>G
ENST00000473506.6:c.*152+68A>G ENSP00000432839.2:n.*152+68A>G
ENST00000473529.5:n.723+68A>G
ENST00000485531.1:n.1158+68A>G
ENST00000487381.5:n.949+68A>G
ENST00000489643.6:n.339+68A>G
ENST00000554085.5:c.*308+68A>G ENSP00000450419.1:n.*308+68A>G
ENST00000554139.5:n.810+68A>G
ENST00000554550.5:c.*184+68A>G ENSP00000451435.1:n.*184+68A>G
ENST00000554638.5:n.1036+68A>G
ENST00000554897.5:c.*251+68A>G ENSP00000450942.1:n.*251+68A>G
ENST00000554944.5:n.913+68A>G
ENST00000555020.5:n.720+68A>G
ENST00000555086.5:n.568+68A>G
ENST00000555214.5:n.385+68A>G
ENST00000556244.1:c.551+68A>G
ENST00000556278.1:c.309+68A>G ENSP00000451792.1:n.309+68A>G
ENST00000556494.5:n.685+68A>G
ENST00000557706.5:n.1126+68A>G
NM_000155.3:c.564+68A>G NP_000146.2:n.564+68A>G
NM_001258332.1:c.237+68A>G NP_001245261.1:n.237+68A>G
NM_000155.4:c.564+68A>G MANE Select NP_000146.2:n.564+68A>G
NM_001258332.2:c.237+68A>G NP_001245261.1:n.237+68A>G