Canonical Allele Identifier: CA342662

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1424747
• ClinVar RCV Id: RCV001924005
• dbSNP Id: rs72552729
• gnomAD v3: 5-132387047-T-C
• gnomAD v4: 5-132387047-T-C
• MyVariant Identifiers: chr5:g.131722739T>C (hg19) ; chr5:g.132387047T>C (hg38)
• PubMed: PMID:10612840 ; PMID:16652335

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387047T>C , CM000667.2:g.132387047T>C	GRCh38
NC_000005.9:g.131722739T>C , CM000667.1:g.131722739T>C	GRCh37
NC_000005.8:g.131750638T>C	NCBI36
NG_008982.1:g.22339T>C
NG_008982.2:g.22344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.688T>C	ENSP00000388838.2:p.Trp230Arg
ENST00000435065.7:c.919T>C	ENSP00000402760.2:p.Trp307Arg
ENST00000448810.6:c.847T>C	ENSP00000401860.2:p.Trp283Arg
ENST00000686757.1:c.*11T>C	ENSP00000510721.1:n.*11T>C
ENST00000687740.1:n.3532T>C
ENST00000688151.1:n.2157T>C
ENST00000689271.1:c.694T>C	ENSP00000510797.1:p.Trp232Arg
ENST00000690900.1:c.*11T>C	ENSP00000510703.1:n.*11T>C
ENST00000692212.1:n.791T>C
ENST00000692355.1:c.205-1874T>C
ENST00000692413.1:c.844-15T>C	ENSP00000509374.1:n.844-15T>C
ENST00000692825.1:c.915T>C	ENSP00000509447.1:n.915T>C
ENST00000693308.1:c.895T>C	ENSP00000509770.1:p.Trp299Arg
ENST00000693763.1:n.2007T>C
ENST00000245407.8:c.847T>C MANE Select	ENSP00000245407.3:p.Trp283Arg
ENST00000245407.7:c.847T>C	ENSP00000245407.3:p.Trp283Arg
ENST00000415928.5:c.616T>C	ENSP00000388838.1:p.Trp206Arg
ENST00000435065.6:c.919T>C	ENSP00000402760.2:p.Trp307Arg
ENST00000437841.6:c.*162T>C	ENSP00000400553.1:n.*162T>C
ENST00000448810.5:c.195T>C
ENST00000461013.5:n.8269T>C
NM_001308122.1:c.919T>C	NP_001295051.1:p.Trp307Arg
NM_003060.3:c.847T>C	NP_003051.1:p.Trp283Arg
XM_011543590.1:c.229T>C	XP_011541892.1:p.Trp77Arg
XR_427718.1:n.1207T>C
XR_948290.1:n.1188T>C
XR_948291.1:n.1201T>C
XM_011543590.2:c.229T>C	XP_011541892.1:p.Trp77Arg
XM_017009778.2:c.319T>C	XP_016865267.1:p.Trp107Arg
XR_001742215.1:n.1188T>C
XR_001742216.1:n.1207T>C
XR_427718.2:n.1207T>C
XR_948290.2:n.1188T>C
XR_948291.2:n.1201T>C
NM_003060.4:c.847T>C MANE Select	NP_003051.1:p.Trp283Arg
NM_001308122.2:c.919T>C	NP_001295051.1:p.Trp307Arg