Canonical Allele Identifier: CA2499225776

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 1117358
• ClinVar RCV Id: RCV001446032
• dbSNP Id: rs2145508277
• gnomAD v4: 20-46056574-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056574T>C , CM000682.2:g.46056574T>C	GRCh38
NC_000020.10:g.44685213T>C , CM000682.1:g.44685213T>C	GRCh37
NC_000020.9:g.44118620T>C	NCBI36
NG_046341.1:g.39885T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3110+10T>C MANE Select	ENSP00000243964.4:n.3110+10T>C
ENST00000243964.6:c.3110+10T>C	ENSP00000243964.3:n.3110+10T>C
ENST00000454036.6:c.3179+10T>C	ENSP00000387694.1:n.3179+10T>C
ENST00000616201.4:c.1298-2082T>C	ENSP00000484585.1:n.1298-2082T>C
ENST00000616202.4:c.613-1907T>C	ENSP00000478369.1:n.613-1907T>C
ENST00000616933.4:c.*2428+10T>C	ENSP00000477569.1:n.*2428+10T>C
ENST00000626937.2:c.510-3025T>C	ENSP00000485953.1:n.510-3025T>C
NM_001134771.1:c.3179+10T>C	NP_001128243.1:n.3179+10T>C
NM_020708.4:c.3110+10T>C	NP_065759.1:n.3110+10T>C
XM_017027981.1:c.3179+10T>C	XP_016883470.1:n.3179+10T>C
NM_001134771.2:c.3179+10T>C	NP_001128243.1:n.3179+10T>C
NM_020708.5:c.3110+10T>C MANE Select	NP_065759.1:n.3110+10T>C