Canonical Allele Identifier: CA409207957

Gene: SLC12A5

Linked Data

• dbSNP Id: rs1274575759
• gnomAD v2: 20-44685134-T-C
• gnomAD v4: 20-46056495-T-C
• MyVariant Identifiers: chr20:g.44685134T>C (hg19) ; chr20:g.46056495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056495T>C , CM000682.2:g.46056495T>C	GRCh38
NC_000020.10:g.44685134T>C , CM000682.1:g.44685134T>C	GRCh37
NC_000020.9:g.44118541T>C	NCBI36
NG_046341.1:g.39806T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.3041T>C MANE Select	ENSP00000243964.4:p.Val1014Ala
ENST00000243964.6:c.3041T>C	ENSP00000243964.3:p.Val1014Ala
ENST00000454036.6:c.3110T>C	ENSP00000387694.1:p.Val1037Ala
ENST00000616201.4:c.1298-2161T>C	ENSP00000484585.1:n.1298-2161T>C
ENST00000616202.4:c.613-1986T>C	ENSP00000478369.1:n.613-1986T>C
ENST00000616933.4:c.*2359T>C	ENSP00000477569.1:n.*2359T>C
ENST00000626937.2:c.510-3104T>C	ENSP00000485953.1:n.510-3104T>C
ENST00000628413.1:n.557T>C
NM_001134771.1:c.3110T>C	NP_001128243.1:p.Val1037Ala
NM_020708.4:c.3041T>C	NP_065759.1:p.Val1014Ala
XM_017027981.1:c.3110T>C	XP_016883470.1:p.Val1037Ala
NM_001134771.2:c.3110T>C	NP_001128243.1:p.Val1037Ala
NM_020708.5:c.3041T>C MANE Select	NP_065759.1:p.Val1014Ala