Canonical Allele Identifier: CA3403979

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1123868
• ClinVar RCV Id: RCV001455033
• dbSNP Id: rs200046767
• ExAC: 5:131721177 C / T
• gnomAD v2: 5-131721177-C-T
• gnomAD v3: 5-132385485-C-T
• gnomAD v4: 5-132385485-C-T
• MyVariant Identifiers: chr5:g.131721177C>T (hg19) ; chr5:g.132385485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385485C>T , CM000667.2:g.132385485C>T	GRCh38
NC_000005.9:g.131721177C>T , CM000667.1:g.131721177C>T	GRCh37
NC_000005.8:g.131749076C>T	NCBI36
NG_008982.1:g.20777C>T
NG_008982.2:g.20782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1171C>T	ENSP00000388838.2:n.665+1171C>T
ENST00000435065.7:c.882C>T	ENSP00000402760.2:p.Cys294=
ENST00000448810.6:c.810C>T	ENSP00000401860.2:p.Cys270=
ENST00000686757.1:c.829C>T	ENSP00000510721.1:p.Arg277Cys
ENST00000687740.1:n.1970C>T
ENST00000688151.1:n.2002C>T
ENST00000689271.1:c.671+1165C>T	ENSP00000510797.1:n.671+1165C>T
ENST00000690900.1:c.781C>T	ENSP00000510703.1:p.Arg261Cys
ENST00000692212.1:n.636C>T
ENST00000692355.1:c.204+1184C>T
ENST00000692413.1:c.829C>T	ENSP00000509374.1:p.Arg277Cys
ENST00000692825.1:c.878C>T	ENSP00000509447.1:n.878C>T
ENST00000693308.1:c.823C>T	ENSP00000509770.1:p.Arg275Cys
ENST00000693763.1:n.1970C>T
ENST00000245407.8:c.810C>T MANE Select	ENSP00000245407.3:p.Cys270=
ENST00000245407.7:c.810C>T	ENSP00000245407.3:p.Cys270=
ENST00000415928.5:c.579C>T	ENSP00000388838.1:p.Cys193=
ENST00000435065.6:c.882C>T	ENSP00000402760.2:p.Cys294=
ENST00000437841.6:c.*125C>T	ENSP00000400553.1:n.*125C>T
ENST00000448810.5:c.158C>T
ENST00000461013.5:n.8232C>T
NM_001308122.1:c.882C>T	NP_001295051.1:p.Cys294=
NM_003060.3:c.810C>T	NP_003051.1:p.Cys270=
XM_011543590.1:c.192C>T	XP_011541892.1:p.Cys64=
XR_427718.1:n.1170C>T
XR_948290.1:n.1151C>T
XR_948291.1:n.1164C>T
XM_011543590.2:c.192C>T	XP_011541892.1:p.Cys64=
XM_017009778.2:c.282C>T	XP_016865267.1:p.Cys94=
XR_001742215.1:n.1151C>T
XR_001742216.1:n.1170C>T
XR_427718.2:n.1170C>T
XR_948290.2:n.1151C>T
XR_948291.2:n.1164C>T
NM_003060.4:c.810C>T MANE Select	NP_003051.1:p.Cys270=
NM_001308122.2:c.882C>T	NP_001295051.1:p.Cys294=