Canonical Allele Identifier: CA373283419

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648779T>G (hg19) ; chr9:g.34648782T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648782T>G , CM000671.2:g.34648782T>G	GRCh38
NC_000009.11:g.34648779T>G , CM000671.1:g.34648779T>G	GRCh37
NC_000009.10:g.34638779T>G	NCBI36
NG_009029.1:g.7145T>G
NG_028966.1:g.1598T>G
NG_009029.2:g.7194T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*296T>G	ENSP00000509954.1:n.*296T>G
ENST00000378842.8:c.708T>G MANE Select	ENSP00000368119.4:p.Ser236Arg
ENST00000378842.7:c.708T>G	ENSP00000368119.3:p.Ser236Arg
ENST00000450095.6:c.381T>G	ENSP00000401956.2:p.Ser127Arg
ENST00000473506.6:c.*296T>G	ENSP00000432839.2:n.*296T>G
ENST00000473529.5:n.867T>G
ENST00000487381.5:n.1398T>G
ENST00000489643.6:n.788T>G
ENST00000554085.5:c.*452T>G	ENSP00000450419.1:n.*452T>G
ENST00000554550.5:c.*328T>G	ENSP00000451435.1:n.*328T>G
ENST00000554638.5:n.1180T>G
ENST00000555020.5:n.1169T>G
ENST00000555086.5:n.712T>G
ENST00000555754.1:n.53T>G
ENST00000556244.1:c.695T>G
ENST00000556278.1:c.432+326T>G	ENSP00000451792.1:n.432+326T>G
ENST00000557706.5:n.1270T>G
NM_000155.3:c.708T>G	NP_000146.2:p.Ser236Arg
NM_001258332.1:c.381T>G	NP_001245261.1:p.Ser127Arg
NM_000155.4:c.708T>G MANE Select	NP_000146.2:p.Ser236Arg
NM_001258332.2:c.381T>G	NP_001245261.1:p.Ser127Arg