Canonical Allele Identifier: CA658761123

Gene: GALT

Linked Data

• dbSNP Id: rs1821136271
• PubMed: PMID:25124065

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647525_34647538del , CM000671.2:g.34647525_34647538del	GRCh38
NC_000009.11:g.34647522_34647535del , CM000671.1:g.34647522_34647535del	GRCh37
NC_000009.10:g.34637522_34637535del	NCBI36
NG_009029.1:g.5888_5901del
NG_028966.1:g.341_354del
NG_009029.2:g.5937_5950del

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.286_299del	ENSP00000509954.1:p.Asp96SerfsTer5
ENST00000378842.8:c.286_299del MANE Select	ENSP00000368119.4:p.Asp96SerfsTer5
ENST00000378842.7:c.286_299del	ENSP00000368119.3:p.Asp96SerfsTer5
ENST00000450095.6:c.50+267_50+280del	ENSP00000401956.2:n.50+267_50+280del
ENST00000465543.6:n.625_638del
ENST00000472111.5:n.327_340del
ENST00000473506.6:c.253-16_253-3del	ENSP00000432839.2:n.253-16_253-3del
ENST00000473529.5:n.333_346del
ENST00000485531.1:n.512_525del
ENST00000487381.5:n.545_558del
ENST00000489643.6:n.282+267_282+280del
ENST00000554085.5:c.*30_*43del	ENSP00000450419.1:n.*30_*43del
ENST00000554139.5:n.339_352del
ENST00000554330.5:n.250-16_250-3del
ENST00000554550.5:c.252+267_252+280del	ENSP00000451435.1:n.252+267_252+280del
ENST00000554638.5:n.543_556del
ENST00000554897.5:c.252+267_252+280del	ENSP00000450942.1:n.252+267_252+280del
ENST00000554944.5:n.283-16_283-3del
ENST00000555020.5:n.316_329del
ENST00000555086.5:n.290_303del
ENST00000555214.5:n.261+267_261+280del
ENST00000556157.1:n.410_423del
ENST00000556244.1:c.273_286del
ENST00000556278.1:c.252+267_252+280del	ENSP00000451792.1:n.252+267_252+280del
ENST00000556403.5:n.299_312del
ENST00000556494.5:n.318_331del
ENST00000557541.5:n.446-16_446-3del
ENST00000557706.5:n.633_646del
NM_000155.3:c.286_299del	NP_000146.2:p.Asp96SerfsTer5
NM_001258332.1:c.50+267_50+280del	NP_001245261.1:n.50+267_50+280del
NM_000155.4:c.286_299del MANE Select	NP_000146.2:p.Asp96SerfsTer5
NM_001258332.2:c.50+267_50+280del	NP_001245261.1:n.50+267_50+280del