Canonical Allele Identifier: CA2573157111

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 1658867
• ClinVar RCV Id: RCV002176033
• dbSNP Id: rs2145482709

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46035757G>C , CM000682.2:g.46035757G>C	GRCh38
NC_000020.10:g.44664396G>C , CM000682.1:g.44664396G>C	GRCh37
NC_000020.9:g.44097803G>C	NCBI36
NG_046341.1:g.19068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.280-20G>C MANE Select	ENSP00000243964.4:n.280-20G>C
ENST00000243964.6:c.280-20G>C	ENSP00000243964.3:n.280-20G>C
ENST00000372315.4:n.429-20G>C
ENST00000454036.6:c.349-20G>C	ENSP00000387694.1:n.349-20G>C
ENST00000539566.3:c.280-20G>C	ENSP00000446091.1:n.280-20G>C
ENST00000608944.5:c.148-20G>C	ENSP00000476885.2:n.148-20G>C
ENST00000616201.4:c.280-20G>C	ENSP00000484585.1:n.280-20G>C
ENST00000616202.4:c.280-20G>C	ENSP00000478369.1:n.280-20G>C
ENST00000616933.4:c.280-20G>C	ENSP00000477569.1:n.280-20G>C
ENST00000622711.4:n.443-20G>C
ENST00000625683.2:n.443-20G>C
ENST00000626937.2:c.280-20G>C	ENSP00000485953.1:n.280-20G>C
ENST00000627290.2:c.*133-20G>C	ENSP00000487449.1:n.*133-20G>C
ENST00000629054.2:n.804-20G>C
NM_001134771.1:c.349-20G>C	NP_001128243.1:n.349-20G>C
NM_020708.4:c.280-20G>C	NP_065759.1:n.280-20G>C
XM_017027981.1:c.349-20G>C	XP_016883470.1:n.349-20G>C
NM_001134771.2:c.349-20G>C	NP_001128243.1:n.349-20G>C
NM_020708.5:c.280-20G>C MANE Select	NP_065759.1:n.280-20G>C