Canonical Allele Identifier: CA373280258
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647659-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647659C>A , CM000671.2:g.34647659C>A GRCh38
NC_000009.11:g.34647656C>A , CM000671.1:g.34647656C>A GRCh37
NC_000009.10:g.34637656C>A NCBI36
NG_009029.1:g.6022C>A
NG_028966.1:g.475C>A
NG_009029.2:g.6071C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.328+92C>A ENSP00000509954.1:n.328+92C>A
ENST00000378842.8:c.331C>A MANE Select ENSP00000368119.4:p.Pro111Thr
ENST00000378842.7:c.331C>A ENSP00000368119.3:p.Pro111Thr
ENST00000450095.6:c.51-173C>A ENSP00000401956.2:n.51-173C>A
ENST00000465543.6:n.670C>A
ENST00000472111.5:n.461C>A
ENST00000473506.6:c.282C>A ENSP00000432839.2:p.Asp94Glu
ENST00000473529.5:n.467C>A
ENST00000485531.1:n.646C>A
ENST00000487381.5:n.590C>A
ENST00000489643.6:n.282+401C>A
ENST00000554085.5:c.*75C>A ENSP00000450419.1:n.*75C>A
ENST00000554139.5:n.384C>A
ENST00000554330.5:n.368C>A
ENST00000554550.5:c.253-173C>A ENSP00000451435.1:n.253-173C>A
ENST00000554638.5:n.677C>A
ENST00000554897.5:c.253-173C>A ENSP00000450942.1:n.253-173C>A
ENST00000554944.5:n.401C>A
ENST00000555020.5:n.361C>A
ENST00000555086.5:n.335C>A
ENST00000555214.5:n.262-389C>A
ENST00000556157.1:n.455C>A
ENST00000556244.1:c.318C>A
ENST00000556278.1:c.252+401C>A ENSP00000451792.1:n.252+401C>A
ENST00000556403.5:n.433C>A
ENST00000556494.5:n.452C>A
ENST00000557541.5:n.475C>A
ENST00000557706.5:n.767C>A
NM_000155.3:c.331C>A NP_000146.2:p.Pro111Thr
NM_001258332.1:c.51-173C>A NP_001245261.1:n.51-173C>A
NM_000155.4:c.331C>A MANE Select NP_000146.2:p.Pro111Thr
NM_001258332.2:c.51-173C>A NP_001245261.1:n.51-173C>A