Canonical Allele Identifier: CA409208064

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 852888
• ClinVar RCV Id: RCV001057598
• dbSNP Id: rs1206199358
• gnomAD v3: 20-46056516-C-T
• gnomAD v4: 20-46056516-C-T
• COSMIC: COSM3547192
• MyVariant Identifiers: chr20:g.44685155C>T (hg19) ; chr20:g.46056516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056516C>T , CM000682.2:g.46056516C>T	GRCh38
NC_000020.10:g.44685155C>T , CM000682.1:g.44685155C>T	GRCh37
NC_000020.9:g.44118562C>T	NCBI36
NG_046341.1:g.39827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3062C>T MANE Select	ENSP00000243964.4:p.Pro1021Leu
ENST00000243964.6:c.3062C>T	ENSP00000243964.3:p.Pro1021Leu
ENST00000454036.6:c.3131C>T	ENSP00000387694.1:p.Pro1044Leu
ENST00000616201.4:c.1298-2140C>T	ENSP00000484585.1:n.1298-2140C>T
ENST00000616202.4:c.613-1965C>T	ENSP00000478369.1:n.613-1965C>T
ENST00000616933.4:c.*2380C>T	ENSP00000477569.1:n.*2380C>T
ENST00000626937.2:c.510-3083C>T	ENSP00000485953.1:n.510-3083C>T
NM_001134771.1:c.3131C>T	NP_001128243.1:p.Pro1044Leu
NM_020708.4:c.3062C>T	NP_065759.1:p.Pro1021Leu
XM_017027981.1:c.3131C>T	XP_016883470.1:p.Pro1044Leu
NM_001134771.2:c.3131C>T	NP_001128243.1:p.Pro1044Leu
NM_020708.5:c.3062C>T MANE Select	NP_065759.1:p.Pro1021Leu