Canonical Allele Identifier: CA9887786

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 1639545
• ClinVar RCV Id: RCV002129125
• dbSNP Id: rs202018911
• ExAC: 20:44685221 A / C
• gnomAD v2: 20-44685221-A-C
• gnomAD v3: 20-46056582-A-C
• gnomAD v4: 20-46056582-A-C
• MyVariant Identifiers: chr20:g.44685221A>C (hg19) ; chr20:g.46056582A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056582A>C , CM000682.2:g.46056582A>C	GRCh38
NC_000020.10:g.44685221A>C , CM000682.1:g.44685221A>C	GRCh37
NC_000020.9:g.44118628A>C	NCBI36
NG_046341.1:g.39893A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3110+18A>C MANE Select	ENSP00000243964.4:n.3110+18A>C
ENST00000243964.6:c.3110+18A>C	ENSP00000243964.3:n.3110+18A>C
ENST00000454036.6:c.3179+18A>C	ENSP00000387694.1:n.3179+18A>C
ENST00000616201.4:c.1298-2074A>C	ENSP00000484585.1:n.1298-2074A>C
ENST00000616202.4:c.613-1899A>C	ENSP00000478369.1:n.613-1899A>C
ENST00000616933.4:c.*2428+18A>C	ENSP00000477569.1:n.*2428+18A>C
ENST00000626937.2:c.510-3017A>C	ENSP00000485953.1:n.510-3017A>C
NM_001134771.1:c.3179+18A>C	NP_001128243.1:n.3179+18A>C
NM_020708.4:c.3110+18A>C	NP_065759.1:n.3110+18A>C
XM_017027981.1:c.3179+18A>C	XP_016883470.1:n.3179+18A>C
NM_001134771.2:c.3179+18A>C	NP_001128243.1:n.3179+18A>C
NM_020708.5:c.3110+18A>C MANE Select	NP_065759.1:n.3110+18A>C