Canonical Allele Identifier: CA464402996

Gene: GALT

Linked Data

• ClinVar Variation Id: 1141508
• ClinVar RCV Id: RCV001478956
• dbSNP Id: rs2132344939
• MyVariant Identifiers: chr9:g.34648797G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648800G>A , CM000671.2:g.34648800G>A	GRCh38
NC_000009.11:g.34648797G>A , CM000671.1:g.34648797G>A	GRCh37
NC_000009.10:g.34638797G>A	NCBI36
NG_009029.1:g.7163G>A
NG_028966.1:g.1616G>A
NG_009029.2:g.7212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*314G>A	ENSP00000509954.1:n.*314G>A
ENST00000378842.8:c.726G>A MANE Select	ENSP00000368119.4:p.Leu242=
ENST00000378842.7:c.726G>A	ENSP00000368119.3:p.Leu242=
ENST00000450095.6:c.399G>A	ENSP00000401956.2:p.Leu133=
ENST00000473506.6:c.*314G>A	ENSP00000432839.2:n.*314G>A
ENST00000473529.5:n.885G>A
ENST00000487381.5:n.1416G>A
ENST00000489643.6:n.806G>A
ENST00000554085.5:c.*470G>A	ENSP00000450419.1:n.*470G>A
ENST00000554550.5:c.*346G>A	ENSP00000451435.1:n.*346G>A
ENST00000554638.5:n.1198G>A
ENST00000555020.5:n.1187G>A
ENST00000555086.5:n.730G>A
ENST00000555754.1:n.71G>A
ENST00000556244.1:c.713G>A
ENST00000556278.1:c.432+344G>A	ENSP00000451792.1:n.432+344G>A
ENST00000557706.5:n.1288G>A
NM_000155.3:c.726G>A	NP_000146.2:p.Leu242=
NM_001258332.1:c.399G>A	NP_001245261.1:p.Leu133=
NM_000155.4:c.726G>A MANE Select	NP_000146.2:p.Leu242=
NM_001258332.2:c.399G>A	NP_001245261.1:p.Leu133=