Canonical Allele Identifier: CA409208220

Gene: SLC12A5

Linked Data

• ClinVar Variation Id: 1052598
• ClinVar RCV Id: RCV001360816
• dbSNP Id: rs2145508232
• MyVariant Identifiers: chr20:g.44685184G>C (hg19) ; chr20:g.46056545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056545G>C , CM000682.2:g.46056545G>C	GRCh38
NC_000020.10:g.44685184G>C , CM000682.1:g.44685184G>C	GRCh37
NC_000020.9:g.44118591G>C	NCBI36
NG_046341.1:g.39856G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3091G>C MANE Select	ENSP00000243964.4:p.Asp1031His
ENST00000243964.6:c.3091G>C	ENSP00000243964.3:p.Asp1031His
ENST00000454036.6:c.3160G>C	ENSP00000387694.1:p.Asp1054His
ENST00000616201.4:c.1298-2111G>C	ENSP00000484585.1:n.1298-2111G>C
ENST00000616202.4:c.613-1936G>C	ENSP00000478369.1:n.613-1936G>C
ENST00000616933.4:c.*2409G>C	ENSP00000477569.1:n.*2409G>C
ENST00000626937.2:c.510-3054G>C	ENSP00000485953.1:n.510-3054G>C
NM_001134771.1:c.3160G>C	NP_001128243.1:p.Asp1054His
NM_020708.4:c.3091G>C	NP_065759.1:p.Asp1031His
XM_017027981.1:c.3160G>C	XP_016883470.1:p.Asp1054His
NM_001134771.2:c.3160G>C	NP_001128243.1:p.Asp1054His
NM_020708.5:c.3091G>C MANE Select	NP_065759.1:p.Asp1031His