Canonical Allele Identifier: CA373278837
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647239C>A , CM000671.2:g.34647239C>A GRCh38
NC_000009.11:g.34647236C>A , CM000671.1:g.34647236C>A GRCh37
NC_000009.10:g.34637236C>A NCBI36
NG_009029.1:g.5602C>A
NG_028966.1:g.55C>A
NG_009029.2:g.5651C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.233C>A ENSP00000509954.1:p.Ala78Asp
ENST00000378842.8:c.233C>A MANE Select ENSP00000368119.4:p.Ala78Asp
ENST00000378842.7:c.233C>A ENSP00000368119.3:p.Ala78Asp
ENST00000450095.6:c.31C>A ENSP00000401956.2:p.Pro11Thr
ENST00000465543.6:n.572C>A
ENST00000468099.2:n.273C>A
ENST00000472111.5:n.274C>A
ENST00000473506.6:c.233C>A ENSP00000432839.2:p.Ala78Asp
ENST00000473529.5:n.280C>A
ENST00000485531.1:n.226C>A
ENST00000487381.5:n.259C>A
ENST00000489643.6:n.263C>A
ENST00000554085.5:c.233C>A ENSP00000450419.1:p.Ala78Asp
ENST00000554139.5:n.286C>A
ENST00000554330.5:n.230C>A
ENST00000554550.5:c.233C>A ENSP00000451435.1:p.Ala78Asp
ENST00000554638.5:n.257C>A
ENST00000554897.5:c.233C>A ENSP00000450942.1:p.Ala78Asp
ENST00000554944.5:n.263C>A
ENST00000555020.5:n.263C>A
ENST00000555086.5:n.237C>A
ENST00000555214.5:n.242C>A
ENST00000556157.1:n.340C>A
ENST00000556244.1:c.117C>A
ENST00000556278.1:c.233C>A ENSP00000451792.1:p.Ala78Asp
ENST00000556403.5:n.246C>A
ENST00000556494.5:n.265C>A
ENST00000557541.5:n.426C>A
ENST00000557706.5:n.347C>A
NM_000155.3:c.233C>A NP_000146.2:p.Ala78Asp
NM_001258332.1:c.31C>A NP_001245261.1:p.Pro11Thr
NM_000155.4:c.233C>A MANE Select NP_000146.2:p.Ala78Asp
NM_001258332.2:c.31C>A NP_001245261.1:p.Pro11Thr