Canonical Allele Identifier: CA3403960

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 460415
• ClinVar RCV Id: RCV000533718
• dbSNP Id: rs121908893
• ExAC: 5:131721127 C / A
• gnomAD v2: 5-131721127-C-A
• gnomAD v3: 5-132385435-C-A
• gnomAD v4: 5-132385435-C-A
• MyVariant Identifiers: chr5:g.131721127C>A (hg19) ; chr5:g.132385435C>A (hg38)
• PubMed: PMID:9700603 ; PMID:12204000 ; PMID:15303004 ; PMID:17594400 ; PMID:23757202

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385435C>A , CM000667.2:g.132385435C>A	GRCh38
NC_000005.9:g.131721127C>A , CM000667.1:g.131721127C>A	GRCh37
NC_000005.8:g.131749026C>A	NCBI36
NG_008982.1:g.20727C>A
NG_008982.2:g.20732C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1121C>A	ENSP00000388838.2:n.665+1121C>A
ENST00000435065.7:c.832C>A	ENSP00000402760.2:p.Arg278=
ENST00000448810.6:c.760C>A	ENSP00000401860.2:p.Arg254=
ENST00000686757.1:c.779C>A	ENSP00000510721.1:p.Pro260Gln
ENST00000687740.1:n.1920C>A
ENST00000688151.1:n.1952C>A
ENST00000689271.1:c.671+1115C>A	ENSP00000510797.1:n.671+1115C>A
ENST00000690900.1:c.731C>A	ENSP00000510703.1:p.Pro244Gln
ENST00000692212.1:n.586C>A
ENST00000692355.1:c.204+1134C>A
ENST00000692413.1:c.779C>A	ENSP00000509374.1:p.Pro260Gln
ENST00000692825.1:c.828C>A	ENSP00000509447.1:n.828C>A
ENST00000693308.1:c.773C>A	ENSP00000509770.1:p.Pro258Gln
ENST00000693763.1:n.1920C>A
ENST00000245407.8:c.760C>A MANE Select	ENSP00000245407.3:p.Arg254=
ENST00000245407.7:c.760C>A	ENSP00000245407.3:p.Arg254=
ENST00000415928.5:c.529C>A	ENSP00000388838.1:p.Arg177=
ENST00000435065.6:c.832C>A	ENSP00000402760.2:p.Arg278=
ENST00000437841.6:c.*75C>A	ENSP00000400553.1:n.*75C>A
ENST00000448810.5:c.108C>A
ENST00000461013.5:n.8182C>A
NM_001308122.1:c.832C>A	NP_001295051.1:p.Arg278=
NM_003060.3:c.760C>A	NP_003051.1:p.Arg254=
XM_011543590.1:c.142C>A	XP_011541892.1:p.Arg48=
XR_427718.1:n.1120C>A
XR_948290.1:n.1101C>A
XR_948291.1:n.1114C>A
XM_011543590.2:c.142C>A	XP_011541892.1:p.Arg48=
XM_017009778.2:c.232C>A	XP_016865267.1:p.Arg78=
XR_001742215.1:n.1101C>A
XR_001742216.1:n.1120C>A
XR_427718.2:n.1120C>A
XR_948290.2:n.1101C>A
XR_948291.2:n.1114C>A
NM_003060.4:c.760C>A MANE Select	NP_003051.1:p.Arg254=
NM_001308122.2:c.832C>A	NP_001295051.1:p.Arg278=