Canonical Allele Identifier: CA9887733

Gene: SLC12A5

Linked Data

• dbSNP Id: rs761451070
• ExAC: 20:44684899 G / C
• gnomAD v2: 20-44684899-G-C
• gnomAD v4: 20-46056260-G-C
• MyVariant Identifiers: chr20:g.44684899G>C (hg19) ; chr20:g.46056260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056260G>C , CM000682.2:g.46056260G>C	GRCh38
NC_000020.10:g.44684899G>C , CM000682.1:g.44684899G>C	GRCh37
NC_000020.9:g.44118306G>C	NCBI36
NG_046341.1:g.39571G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2898G>C MANE Select	ENSP00000243964.4:p.Lys966Asn
ENST00000243964.6:c.2898G>C	ENSP00000243964.3:p.Lys966Asn
ENST00000454036.6:c.2967G>C	ENSP00000387694.1:p.Lys989Asn
ENST00000616201.4:c.1298-2396G>C	ENSP00000484585.1:n.1298-2396G>C
ENST00000616202.4:c.613-2221G>C	ENSP00000478369.1:n.613-2221G>C
ENST00000616933.4:c.*2216G>C	ENSP00000477569.1:n.*2216G>C
ENST00000626937.2:c.510-3339G>C	ENSP00000485953.1:n.510-3339G>C
ENST00000628413.1:n.414G>C
NM_001134771.1:c.2967G>C	NP_001128243.1:p.Lys989Asn
NM_020708.4:c.2898G>C	NP_065759.1:p.Lys966Asn
XM_017027981.1:c.2967G>C	XP_016883470.1:p.Lys989Asn
NM_001134771.2:c.2967G>C	NP_001128243.1:p.Lys989Asn
NM_020708.5:c.2898G>C MANE Select	NP_065759.1:p.Lys966Asn