Canonical Allele Identifier: CA373284030

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648882G>A (hg19) ; chr9:g.34648885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648885G>A , CM000671.2:g.34648885G>A	GRCh38
NC_000009.11:g.34648882G>A , CM000671.1:g.34648882G>A	GRCh37
NC_000009.10:g.34638882G>A	NCBI36
NG_009029.1:g.7248G>A
NG_028966.1:g.1701G>A
NG_009029.2:g.7297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*399G>A	ENSP00000509954.1:n.*399G>A
ENST00000378842.8:c.811G>A MANE Select	ENSP00000368119.4:p.Glu271Lys
ENST00000378842.7:c.811G>A	ENSP00000368119.3:p.Glu271Lys
ENST00000450095.6:c.484G>A	ENSP00000401956.2:p.Glu162Lys
ENST00000473506.6:c.*399G>A	ENSP00000432839.2:n.*399G>A
ENST00000489643.6:n.891G>A
ENST00000554085.5:c.*555G>A	ENSP00000450419.1:n.*555G>A
ENST00000554550.5:c.*431G>A	ENSP00000451435.1:n.*431G>A
ENST00000554638.5:n.1283G>A
ENST00000555020.5:n.1272G>A
ENST00000555086.5:n.815G>A
ENST00000555754.1:n.156G>A
ENST00000556244.1:c.798G>A
ENST00000556278.1:c.432+429G>A	ENSP00000451792.1:n.432+429G>A
ENST00000557706.5:n.1373G>A
NM_000155.3:c.811G>A	NP_000146.2:p.Glu271Lys
NM_001258332.1:c.484G>A	NP_001245261.1:p.Glu162Lys
NM_000155.4:c.811G>A MANE Select	NP_000146.2:p.Glu271Lys
NM_001258332.2:c.484G>A	NP_001245261.1:p.Glu162Lys