Canonical Allele Identifier: CA360809698

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1357067
• ClinVar RCV Id: RCV001870412
• dbSNP Id: rs2126792661
• MyVariant Identifiers: chr5:g.131729394A>C (hg19) ; chr5:g.132393702A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393702A>C , CM000667.2:g.132393702A>C	GRCh38
NC_000005.9:g.131729394A>C , CM000667.1:g.131729394A>C	GRCh37
NC_000005.8:g.131757293A>C	NCBI36
NG_008982.1:g.28994A>C
NG_008982.2:g.28999A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-483A>C	ENSP00000388838.2:n.1292-483A>C
ENST00000435065.7:c.1549A>C	ENSP00000402760.2:p.Ile517Leu
ENST00000448810.6:c.*329A>C	ENSP00000401860.2:n.*329A>C
ENST00000685543.1:n.1618A>C
ENST00000686757.1:c.*641A>C	ENSP00000510721.1:n.*641A>C
ENST00000686868.1:n.469A>C
ENST00000687740.1:n.4162A>C
ENST00000688151.1:n.2787A>C
ENST00000689271.1:c.1324A>C	ENSP00000510797.1:p.Ile442Leu
ENST00000690900.1:c.*641A>C	ENSP00000510703.1:n.*641A>C
ENST00000692212.1:n.4617A>C
ENST00000692355.1:c.730A>C
ENST00000692413.1:c.1459A>C	ENSP00000509374.1:p.Ile487Leu
ENST00000692825.1:c.1545A>C	ENSP00000509447.1:n.1545A>C
ENST00000693308.1:c.1525A>C	ENSP00000509770.1:p.Ile509Leu
ENST00000693763.1:n.2637A>C
ENST00000245407.8:c.1477A>C MANE Select	ENSP00000245407.3:p.Ile493Leu
ENST00000245407.7:c.1477A>C	ENSP00000245407.3:p.Ile493Leu
ENST00000435065.6:c.1549A>C	ENSP00000402760.2:p.Ile517Leu
ENST00000447841.5:c.321A>C
ENST00000448810.5:c.739A>C
ENST00000461013.5:n.8899A>C
ENST00000475308.1:n.2155A>C
NM_001308122.1:c.1549A>C	NP_001295051.1:p.Ile517Leu
NM_003060.3:c.1477A>C	NP_003051.1:p.Ile493Leu
XM_011543590.1:c.859A>C	XP_011541892.1:p.Ile287Leu
XR_948290.1:n.1603A>C
XM_011543590.2:c.859A>C	XP_011541892.1:p.Ile287Leu
XM_017009778.2:c.949A>C	XP_016865267.1:p.Ile317Leu
XR_001742215.1:n.1732A>C
XR_001742216.1:n.1751A>C
XR_427718.2:n.1837A>C
XR_948290.2:n.1603A>C
XR_948291.2:n.1831A>C
NM_003060.4:c.1477A>C MANE Select	NP_003051.1:p.Ile493Leu
NM_001308122.2:c.1549A>C	NP_001295051.1:p.Ile517Leu