Canonical Allele Identifier: CA373278670

Gene: GALT

Linked Data

• ClinVar Variation Id: 495672
• ClinVar RCV Id: RCV000589593 ; RCV001276261
• dbSNP Id: rs1554709147
• MyVariant Identifiers: chr9:g.34647175G>A (hg19) ; chr9:g.34647178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647178G>A , CM000671.2:g.34647178G>A	GRCh38
NC_000009.11:g.34647175G>A , CM000671.1:g.34647175G>A	GRCh37
NC_000009.10:g.34637175G>A	NCBI36
NG_009029.1:g.5541G>A
NG_009029.2:g.5590G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.172G>A	ENSP00000509954.1:p.Glu58Lys
ENST00000378842.8:c.172G>A MANE Select	ENSP00000368119.4:p.Glu58Lys
ENST00000378842.7:c.172G>A	ENSP00000368119.3:p.Glu58Lys
ENST00000450095.6:c.-31G>A	ENSP00000401956.2:n.-31G>A
ENST00000465543.6:n.511G>A
ENST00000468099.2:n.212G>A
ENST00000472111.5:n.213G>A
ENST00000473506.6:c.172G>A	ENSP00000432839.2:p.Glu58Lys
ENST00000473529.5:n.219G>A
ENST00000485531.1:n.165G>A
ENST00000487381.5:n.198G>A
ENST00000489643.6:n.202G>A
ENST00000554085.5:c.172G>A	ENSP00000450419.1:p.Glu58Lys
ENST00000554139.5:n.225G>A
ENST00000554330.5:n.169G>A
ENST00000554550.5:c.172G>A	ENSP00000451435.1:p.Glu58Lys
ENST00000554638.5:n.196G>A
ENST00000554897.5:c.172G>A	ENSP00000450942.1:p.Glu58Lys
ENST00000554944.5:n.202G>A
ENST00000555020.5:n.202G>A
ENST00000555086.5:n.176G>A
ENST00000555214.5:n.181G>A
ENST00000556157.1:n.279G>A
ENST00000556244.1:c.56G>A
ENST00000556278.1:c.172G>A	ENSP00000451792.1:p.Glu58Lys
ENST00000556403.5:n.185G>A
ENST00000556494.5:n.204G>A
ENST00000557541.5:n.365G>A
ENST00000557706.5:n.286G>A
NM_000155.3:c.172G>A	NP_000146.2:p.Glu58Lys
NM_001258332.1:c.-31G>A	NP_001245261.1:n.-31G>A
NM_000155.4:c.172G>A MANE Select	NP_000146.2:p.Glu58Lys
NM_001258332.2:c.-31G>A	NP_001245261.1:n.-31G>A