Canonical Allele Identifier: CA409187063

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 2093602
• ClinVar RCV Id: RCV002996835
• MyVariant Identifiers: chr20:g.44663682G>A (hg19) ; chr20:g.46035043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46035043G>A , CM000682.2:g.46035043G>A	GRCh38
NC_000020.10:g.44663682G>A , CM000682.1:g.44663682G>A	GRCh37
NC_000020.9:g.44097089G>A	NCBI36
NG_046341.1:g.18354G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.147+1G>A MANE Select	ENSP00000243964.4:n.147+1G>A
ENST00000243964.6:c.147+1G>A	ENSP00000243964.3:n.147+1G>A
ENST00000372315.4:n.296+1G>A
ENST00000454036.6:c.216+1G>A	ENSP00000387694.1:n.216+1G>A
ENST00000539566.3:c.147+1G>A	ENSP00000446091.1:n.147+1G>A
ENST00000608944.5:c.15+1G>A	ENSP00000476885.2:n.15+1G>A
ENST00000616201.4:c.147+1G>A	ENSP00000484585.1:n.147+1G>A
ENST00000616202.4:c.147+1G>A	ENSP00000478369.1:n.147+1G>A
ENST00000616933.4:c.147+1G>A	ENSP00000477569.1:n.147+1G>A
ENST00000622711.4:n.310+1G>A
ENST00000625683.2:n.310+1G>A
ENST00000626937.2:c.147+1G>A	ENSP00000485953.1:n.147+1G>A
ENST00000627290.2:c.147+1G>A	ENSP00000487449.1:n.147+1G>A
ENST00000629054.2:n.311G>A
NM_001134771.1:c.216+1G>A	NP_001128243.1:n.216+1G>A
NM_020708.4:c.147+1G>A	NP_065759.1:n.147+1G>A
XM_017027981.1:c.216+1G>A	XP_016883470.1:n.216+1G>A
NM_001134771.2:c.216+1G>A	NP_001128243.1:n.216+1G>A
NM_020708.5:c.147+1G>A MANE Select	NP_065759.1:n.147+1G>A