Canonical Allele Identifier: CA409187551

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 971851
• ClinVar RCV Id: RCV001247731
• dbSNP Id: rs2084493674
• COSMIC: COSM6160119 ; COSM6160120
• MyVariant Identifiers: chr20:g.44664453C>T (hg19) ; chr20:g.46035814C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46035814C>T , CM000682.2:g.46035814C>T	GRCh38
NC_000020.10:g.44664453C>T , CM000682.1:g.44664453C>T	GRCh37
NC_000020.9:g.44097860C>T	NCBI36
NG_046341.1:g.19125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.317C>T MANE Select	ENSP00000243964.4:p.Pro106Leu
ENST00000243964.6:c.317C>T	ENSP00000243964.3:p.Pro106Leu
ENST00000372315.4:n.466C>T
ENST00000454036.6:c.386C>T	ENSP00000387694.1:p.Pro129Leu
ENST00000539566.3:c.317C>T	ENSP00000446091.1:p.Pro106Leu
ENST00000608944.5:c.185C>T	ENSP00000476885.2:p.Pro62Leu
ENST00000616201.4:c.317C>T	ENSP00000484585.1:p.Pro106Leu
ENST00000616202.4:c.317C>T	ENSP00000478369.1:p.Pro106Leu
ENST00000616933.4:c.317C>T	ENSP00000477569.1:p.Pro106Leu
ENST00000622711.4:n.480C>T
ENST00000625683.2:n.480C>T
ENST00000626937.2:c.317C>T	ENSP00000485953.1:p.Pro106Leu
ENST00000627290.2:c.*170C>T	ENSP00000487449.1:n.*170C>T
ENST00000629054.2:n.841C>T
NM_001134771.1:c.386C>T	NP_001128243.1:p.Pro129Leu
NM_020708.4:c.317C>T	NP_065759.1:p.Pro106Leu
XM_017027981.1:c.386C>T	XP_016883470.1:p.Pro129Leu
NM_001134771.2:c.386C>T	NP_001128243.1:p.Pro129Leu
NM_020708.5:c.317C>T MANE Select	NP_065759.1:p.Pro106Leu