Canonical Allele Identifier: CA373278548
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647121G>C , CM000671.2:g.34647121G>C GRCh38
NC_000009.11:g.34647118G>C , CM000671.1:g.34647118G>C GRCh37
NC_000009.10:g.34637118G>C NCBI36
NG_009029.1:g.5484G>C
NG_009029.2:g.5533G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.115G>C ENSP00000509954.1:p.Asp39His
ENST00000378842.8:c.115G>C MANE Select ENSP00000368119.4:p.Asp39His
ENST00000378842.7:c.115G>C ENSP00000368119.3:p.Asp39His
ENST00000450095.6:c.-88G>C ENSP00000401956.2:n.-88G>C
ENST00000465543.6:n.454G>C
ENST00000468099.2:n.155G>C
ENST00000472111.5:n.156G>C
ENST00000473506.6:c.115G>C ENSP00000432839.2:p.Asp39His
ENST00000473529.5:n.162G>C
ENST00000485531.1:n.108G>C
ENST00000487381.5:n.141G>C
ENST00000489643.6:n.145G>C
ENST00000554085.5:c.115G>C ENSP00000450419.1:p.Asp39His
ENST00000554139.5:n.168G>C
ENST00000554330.5:n.112G>C
ENST00000554550.5:c.115G>C ENSP00000451435.1:p.Asp39His
ENST00000554638.5:n.139G>C
ENST00000554897.5:c.115G>C ENSP00000450942.1:p.Asp39His
ENST00000554944.5:n.145G>C
ENST00000555020.5:n.145G>C
ENST00000555086.5:n.119G>C
ENST00000555214.5:n.124G>C
ENST00000556157.1:n.222G>C
ENST00000556278.1:c.115G>C ENSP00000451792.1:p.Asp39His
ENST00000556403.5:n.128G>C
ENST00000556494.5:n.147G>C
ENST00000557541.5:n.308G>C
ENST00000557706.5:n.229G>C
ENST00000605275.1:n.653G>C
NM_000155.3:c.115G>C NP_000146.2:p.Asp39His
NM_001258332.1:c.-88G>C NP_001245261.1:n.-88G>C
NM_000155.4:c.115G>C MANE Select NP_000146.2:p.Asp39His
NM_001258332.2:c.-88G>C NP_001245261.1:n.-88G>C