Canonical Allele Identifier: CA373283284

Gene: GALT

Linked Data

• gnomAD v4: 9-34648762-G-A
• MyVariant Identifiers: chr9:g.34648759G>A (hg19) ; chr9:g.34648762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648762G>A , CM000671.2:g.34648762G>A	GRCh38
NC_000009.11:g.34648759G>A , CM000671.1:g.34648759G>A	GRCh37
NC_000009.10:g.34638759G>A	NCBI36
NG_009029.1:g.7125G>A
NG_028966.1:g.1578G>A
NG_009029.2:g.7174G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*276G>A	ENSP00000509954.1:n.*276G>A
ENST00000378842.8:c.688G>A MANE Select	ENSP00000368119.4:p.Glu230Lys
ENST00000378842.7:c.688G>A	ENSP00000368119.3:p.Glu230Lys
ENST00000450095.6:c.361G>A	ENSP00000401956.2:p.Glu121Lys
ENST00000473506.6:c.*276G>A	ENSP00000432839.2:n.*276G>A
ENST00000473529.5:n.847G>A
ENST00000487381.5:n.1378G>A
ENST00000489643.6:n.768G>A
ENST00000554085.5:c.*432G>A	ENSP00000450419.1:n.*432G>A
ENST00000554550.5:c.*308G>A	ENSP00000451435.1:n.*308G>A
ENST00000554638.5:n.1160G>A
ENST00000555020.5:n.1149G>A
ENST00000555086.5:n.692G>A
ENST00000555754.1:n.33G>A
ENST00000556244.1:c.675G>A
ENST00000556278.1:c.432+306G>A	ENSP00000451792.1:n.432+306G>A
ENST00000557706.5:n.1250G>A
NM_000155.3:c.688G>A	NP_000146.2:p.Glu230Lys
NM_001258332.1:c.361G>A	NP_001245261.1:p.Glu121Lys
NM_000155.4:c.688G>A MANE Select	NP_000146.2:p.Glu230Lys
NM_001258332.2:c.361G>A	NP_001245261.1:p.Glu121Lys