Canonical Allele Identifier: CA3403972

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 846688
• ClinVar RCV Id: RCV001050052 ; RCV002226512
• dbSNP Id: rs538372785
• ExAC: 5:131721164 C / T
• gnomAD v2: 5-131721164-C-T
• gnomAD v3: 5-132385472-C-T
• gnomAD v4: 5-132385472-C-T
• MyVariant Identifiers: chr5:g.131721164C>T (hg19) ; chr5:g.132385472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385472C>T , CM000667.2:g.132385472C>T	GRCh38
NC_000005.9:g.131721164C>T , CM000667.1:g.131721164C>T	GRCh37
NC_000005.8:g.131749063C>T	NCBI36
NG_008982.1:g.20764C>T
NG_008982.2:g.20769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1158C>T	ENSP00000388838.2:n.665+1158C>T
ENST00000435065.7:c.869C>T	ENSP00000402760.2:p.Pro290Leu
ENST00000448810.6:c.797C>T	ENSP00000401860.2:p.Pro266Leu
ENST00000686757.1:c.816C>T	ENSP00000510721.1:p.Ala272=
ENST00000687740.1:n.1957C>T
ENST00000688151.1:n.1989C>T
ENST00000689271.1:c.671+1152C>T	ENSP00000510797.1:n.671+1152C>T
ENST00000690900.1:c.768C>T	ENSP00000510703.1:p.Ala256=
ENST00000692212.1:n.623C>T
ENST00000692355.1:c.204+1171C>T
ENST00000692413.1:c.816C>T	ENSP00000509374.1:p.Ala272=
ENST00000692825.1:c.865C>T	ENSP00000509447.1:n.865C>T
ENST00000693308.1:c.810C>T	ENSP00000509770.1:p.Ala270=
ENST00000693763.1:n.1957C>T
ENST00000245407.8:c.797C>T MANE Select	ENSP00000245407.3:p.Pro266Leu
ENST00000245407.7:c.797C>T	ENSP00000245407.3:p.Pro266Leu
ENST00000415928.5:c.566C>T	ENSP00000388838.1:p.Pro189Leu
ENST00000435065.6:c.869C>T	ENSP00000402760.2:p.Pro290Leu
ENST00000437841.6:c.*112C>T	ENSP00000400553.1:n.*112C>T
ENST00000448810.5:c.145C>T
ENST00000461013.5:n.8219C>T
NM_001308122.1:c.869C>T	NP_001295051.1:p.Pro290Leu
NM_003060.3:c.797C>T	NP_003051.1:p.Pro266Leu
XM_011543590.1:c.179C>T	XP_011541892.1:p.Pro60Leu
XR_427718.1:n.1157C>T
XR_948290.1:n.1138C>T
XR_948291.1:n.1151C>T
XM_011543590.2:c.179C>T	XP_011541892.1:p.Pro60Leu
XM_017009778.2:c.269C>T	XP_016865267.1:p.Pro90Leu
XR_001742215.1:n.1138C>T
XR_001742216.1:n.1157C>T
XR_427718.2:n.1157C>T
XR_948290.2:n.1138C>T
XR_948291.2:n.1151C>T
NM_003060.4:c.797C>T MANE Select	NP_003051.1:p.Pro266Leu
NM_001308122.2:c.869C>T	NP_001295051.1:p.Pro290Leu