Canonical Allele Identifier: CA373285280

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649546C>A (hg19) ; chr9:g.34649549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649549C>A , CM000671.2:g.34649549C>A	GRCh38
NC_000009.11:g.34649546C>A , CM000671.1:g.34649546C>A	GRCh37
NC_000009.10:g.34639546C>A	NCBI36
NG_009029.1:g.7912C>A
NG_028966.1:g.2365C>A
NG_009029.2:g.7961C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*632C>A	ENSP00000509954.1:n.*632C>A
ENST00000378842.8:c.1044C>A MANE Select	ENSP00000368119.4:p.Asp348Glu
ENST00000378842.7:c.1044C>A	ENSP00000368119.3:p.Asp348Glu
ENST00000450095.6:c.717C>A	ENSP00000401956.2:p.Asp239Glu
ENST00000488412.2:n.628C>A
ENST00000489643.6:n.1452C>A
ENST00000554550.5:c.*664C>A	ENSP00000451435.1:n.*664C>A
ENST00000554638.5:n.1516C>A
ENST00000555020.5:n.1833C>A
ENST00000555754.1:n.492C>A
ENST00000556278.1:c.432+1093C>A	ENSP00000451792.1:n.432+1093C>A
ENST00000557706.5:n.1619C>A
NM_000155.3:c.1044C>A	NP_000146.2:p.Asp348Glu
NM_001258332.1:c.717C>A	NP_001245261.1:p.Asp239Glu
NM_000155.4:c.1044C>A MANE Select	NP_000146.2:p.Asp348Glu
NM_001258332.2:c.717C>A	NP_001245261.1:p.Asp239Glu