Canonical Allele Identifier: CA373284823

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649448T>A (hg19) ; chr9:g.34649451T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649451T>A , CM000671.2:g.34649451T>A	GRCh38
NC_000009.11:g.34649448T>A , CM000671.1:g.34649448T>A	GRCh37
NC_000009.10:g.34639448T>A	NCBI36
NG_009029.1:g.7814T>A
NG_028966.1:g.2267T>A
NG_009029.2:g.7863T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*534T>A	ENSP00000509954.1:n.*534T>A
ENST00000378842.8:c.946T>A MANE Select	ENSP00000368119.4:p.Trp316Arg
ENST00000378842.7:c.946T>A	ENSP00000368119.3:p.Trp316Arg
ENST00000450095.6:c.619T>A	ENSP00000401956.2:p.Trp207Arg
ENST00000488412.2:n.530T>A
ENST00000489643.6:n.1354T>A
ENST00000554550.5:c.*566T>A	ENSP00000451435.1:n.*566T>A
ENST00000554638.5:n.1418T>A
ENST00000555020.5:n.1735T>A
ENST00000555754.1:n.394T>A
ENST00000556278.1:c.432+995T>A	ENSP00000451792.1:n.432+995T>A
ENST00000557706.5:n.1521T>A
NM_000155.3:c.946T>A	NP_000146.2:p.Trp316Arg
NM_001258332.1:c.619T>A	NP_001245261.1:p.Trp207Arg
NM_000155.4:c.946T>A MANE Select	NP_000146.2:p.Trp316Arg
NM_001258332.2:c.619T>A	NP_001245261.1:p.Trp207Arg