Canonical Allele Identifier: CA373281952
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648361A>G , CM000671.2:g.34648361A>G GRCh38
NC_000009.11:g.34648358A>G , CM000671.1:g.34648358A>G GRCh37
NC_000009.10:g.34638358A>G NCBI36
NG_009029.1:g.6724A>G
NG_028966.1:g.1177A>G
NG_009029.2:g.6773A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*180A>G ENSP00000509954.1:n.*180A>G
ENST00000378842.8:c.592A>G MANE Select ENSP00000368119.4:p.Ile198Val
ENST00000378842.7:c.592A>G ENSP00000368119.3:p.Ile198Val
ENST00000450095.6:c.265A>G ENSP00000401956.2:p.Ile89Val
ENST00000472111.5:n.848A>G
ENST00000473506.6:c.*180A>G ENSP00000432839.2:n.*180A>G
ENST00000473529.5:n.751A>G
ENST00000485531.1:n.1186A>G
ENST00000487381.5:n.977A>G
ENST00000489643.6:n.367A>G
ENST00000554085.5:c.*336A>G ENSP00000450419.1:n.*336A>G
ENST00000554139.5:n.838A>G
ENST00000554550.5:c.*212A>G ENSP00000451435.1:n.*212A>G
ENST00000554638.5:n.1064A>G
ENST00000554897.5:c.*279A>G ENSP00000450942.1:n.*279A>G
ENST00000554944.5:n.941A>G
ENST00000555020.5:n.748A>G
ENST00000555086.5:n.596A>G
ENST00000555214.5:n.413A>G
ENST00000556244.1:c.579A>G
ENST00000556278.1:c.337A>G ENSP00000451792.1:p.Ile113Val
ENST00000556494.5:n.713A>G
ENST00000557706.5:n.1154A>G
NM_000155.3:c.592A>G NP_000146.2:p.Ile198Val
NM_001258332.1:c.265A>G NP_001245261.1:p.Ile89Val
NM_000155.4:c.592A>G MANE Select NP_000146.2:p.Ile198Val
NM_001258332.2:c.265A>G NP_001245261.1:p.Ile89Val