Canonical Allele Identifier: CA116378

Gene: GALT

Linked Data

• ClinVar Variation Id: 3612
• ClinVar RCV Id: RCV000003796
• dbSNP Id: rs1800461
• MyVariant Identifiers: chr9:g.34647187C>A (hg19) ; chr9:g.34647190C>A (hg38)
• PubMed: PMID:2011574

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647190C>A , CM000671.2:g.34647190C>A	GRCh38
NC_000009.11:g.34647187C>A , CM000671.1:g.34647187C>A	GRCh37
NC_000009.10:g.34637187C>A	NCBI36
NG_009029.1:g.5553C>A
NG_028966.1:g.6C>A
NG_009029.2:g.5602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.184C>A	ENSP00000509954.1:p.Leu62Met
ENST00000378842.8:c.184C>A MANE Select	ENSP00000368119.4:p.Leu62Met
ENST00000378842.7:c.184C>A	ENSP00000368119.3:p.Leu62Met
ENST00000450095.6:c.-19C>A	ENSP00000401956.2:n.-19C>A
ENST00000465543.6:n.523C>A
ENST00000468099.2:n.224C>A
ENST00000472111.5:n.225C>A
ENST00000473506.6:c.184C>A	ENSP00000432839.2:p.Leu62Met
ENST00000473529.5:n.231C>A
ENST00000485531.1:n.177C>A
ENST00000487381.5:n.210C>A
ENST00000489643.6:n.214C>A
ENST00000554085.5:c.184C>A	ENSP00000450419.1:p.Leu62Met
ENST00000554139.5:n.237C>A
ENST00000554330.5:n.181C>A
ENST00000554550.5:c.184C>A	ENSP00000451435.1:p.Leu62Met
ENST00000554638.5:n.208C>A
ENST00000554897.5:c.184C>A	ENSP00000450942.1:p.Leu62Met
ENST00000554944.5:n.214C>A
ENST00000555020.5:n.214C>A
ENST00000555086.5:n.188C>A
ENST00000555214.5:n.193C>A
ENST00000556157.1:n.291C>A
ENST00000556244.1:c.68C>A
ENST00000556278.1:c.184C>A	ENSP00000451792.1:p.Leu62Met
ENST00000556403.5:n.197C>A
ENST00000556494.5:n.216C>A
ENST00000557541.5:n.377C>A
ENST00000557706.5:n.298C>A
NM_000155.3:c.184C>A	NP_000146.2:p.Leu62Met
NM_001258332.1:c.-19C>A	NP_001245261.1:n.-19C>A
NM_000155.4:c.184C>A MANE Select	NP_000146.2:p.Leu62Met
NM_001258332.2:c.-19C>A	NP_001245261.1:n.-19C>A