Canonical Allele Identifier: CA9887710

Gene: SLC12A5

Linked Data

• dbSNP Id: rs774108374
• ExAC: 20:44684797 T / C
• gnomAD v2: 20-44684797-T-C
• gnomAD v3: 20-46056158-T-C
• gnomAD v4: 20-46056158-T-C
• COSMIC: COSM3294304
• MyVariant Identifiers: chr20:g.44684797T>C (hg19) ; chr20:g.46056158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46056158T>C , CM000682.2:g.46056158T>C	GRCh38
NC_000020.10:g.44684797T>C , CM000682.1:g.44684797T>C	GRCh37
NC_000020.9:g.44118204T>C	NCBI36
NG_046341.1:g.39469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243964.7:c.2796T>C MANE Select	ENSP00000243964.4:p.Ser932=
ENST00000243964.6:c.2796T>C	ENSP00000243964.3:p.Ser932=
ENST00000454036.6:c.2865T>C	ENSP00000387694.1:p.Ser955=
ENST00000616201.4:c.1298-2498T>C	ENSP00000484585.1:n.1298-2498T>C
ENST00000616202.4:c.613-2323T>C	ENSP00000478369.1:n.613-2323T>C
ENST00000616933.4:c.*2114T>C	ENSP00000477569.1:n.*2114T>C
ENST00000626937.2:c.510-3441T>C	ENSP00000485953.1:n.510-3441T>C
ENST00000628413.1:n.312T>C
NM_001134771.1:c.2865T>C	NP_001128243.1:p.Ser955=
NM_020708.4:c.2796T>C	NP_065759.1:p.Ser932=
XM_017027981.1:c.2865T>C	XP_016883470.1:p.Ser955=
NM_001134771.2:c.2865T>C	NP_001128243.1:p.Ser955=
NM_020708.5:c.2796T>C MANE Select	NP_065759.1:p.Ser932=