Canonical Allele Identifier: CA409207323

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 1008133
• ClinVar RCV Id: RCV001305422
• dbSNP Id: rs2084689806
• MyVariant Identifiers: chr20:g.44684807G>A (hg19) ; chr20:g.46056168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056168G>A , CM000682.2:g.46056168G>A	GRCh38
NC_000020.10:g.44684807G>A , CM000682.1:g.44684807G>A	GRCh37
NC_000020.9:g.44118214G>A	NCBI36
NG_046341.1:g.39479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2806G>A MANE Select	ENSP00000243964.4:p.Glu936Lys
ENST00000243964.6:c.2806G>A	ENSP00000243964.3:p.Glu936Lys
ENST00000454036.6:c.2875G>A	ENSP00000387694.1:p.Glu959Lys
ENST00000616201.4:c.1298-2488G>A	ENSP00000484585.1:n.1298-2488G>A
ENST00000616202.4:c.613-2313G>A	ENSP00000478369.1:n.613-2313G>A
ENST00000616933.4:c.*2124G>A	ENSP00000477569.1:n.*2124G>A
ENST00000626937.2:c.510-3431G>A	ENSP00000485953.1:n.510-3431G>A
ENST00000628413.1:n.322G>A
NM_001134771.1:c.2875G>A	NP_001128243.1:p.Glu959Lys
NM_020708.4:c.2806G>A	NP_065759.1:p.Glu936Lys
XM_017027981.1:c.2875G>A	XP_016883470.1:p.Glu959Lys
NM_001134771.2:c.2875G>A	NP_001128243.1:p.Glu959Lys
NM_020708.5:c.2806G>A MANE Select	NP_065759.1:p.Glu936Lys