Canonical Allele Identifier: CA373285252

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649542G>A (hg19) ; chr9:g.34649545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649545G>A , CM000671.2:g.34649545G>A	GRCh38
NC_000009.11:g.34649542G>A , CM000671.1:g.34649542G>A	GRCh37
NC_000009.10:g.34639542G>A	NCBI36
NG_009029.1:g.7908G>A
NG_028966.1:g.2361G>A
NG_009029.2:g.7957G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*628G>A	ENSP00000509954.1:n.*628G>A
ENST00000378842.8:c.1040G>A MANE Select	ENSP00000368119.4:p.Arg347Lys
ENST00000378842.7:c.1040G>A	ENSP00000368119.3:p.Arg347Lys
ENST00000450095.6:c.713G>A	ENSP00000401956.2:p.Arg238Lys
ENST00000488412.2:n.624G>A
ENST00000489643.6:n.1448G>A
ENST00000554550.5:c.*660G>A	ENSP00000451435.1:n.*660G>A
ENST00000554638.5:n.1512G>A
ENST00000555020.5:n.1829G>A
ENST00000555754.1:n.488G>A
ENST00000556278.1:c.432+1089G>A	ENSP00000451792.1:n.432+1089G>A
ENST00000557706.5:n.1615G>A
NM_000155.3:c.1040G>A	NP_000146.2:p.Arg347Lys
NM_001258332.1:c.713G>A	NP_001245261.1:p.Arg238Lys
NM_000155.4:c.1040G>A MANE Select	NP_000146.2:p.Arg347Lys
NM_001258332.2:c.713G>A	NP_001245261.1:p.Arg238Lys