Canonical Allele Identifier: CA360805506

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1580888097
• gnomAD v4: 5-132387028-C-G
• MyVariant Identifiers: chr5:g.131722720C>G (hg19) ; chr5:g.132387028C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387028C>G , CM000667.2:g.132387028C>G	GRCh38
NC_000005.9:g.131722720C>G , CM000667.1:g.131722720C>G	GRCh37
NC_000005.8:g.131750619C>G	NCBI36
NG_008982.1:g.22320C>G
NG_008982.2:g.22325C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.669C>G	ENSP00000388838.2:p.Phe223Leu
ENST00000435065.7:c.900C>G	ENSP00000402760.2:p.Phe300Leu
ENST00000448810.6:c.828C>G	ENSP00000401860.2:p.Phe276Leu
ENST00000686757.1:c.847C>G	ENSP00000510721.1:p.His283Asp
ENST00000687740.1:n.3513C>G
ENST00000688151.1:n.2138C>G
ENST00000689271.1:c.675C>G	ENSP00000510797.1:p.Phe225Leu
ENST00000690900.1:c.799C>G	ENSP00000510703.1:p.His267Asp
ENST00000692212.1:n.772C>G
ENST00000692355.1:c.205-1893C>G
ENST00000692413.1:c.844-34C>G	ENSP00000509374.1:n.844-34C>G
ENST00000692825.1:c.896C>G	ENSP00000509447.1:n.896C>G
ENST00000693308.1:c.876C>G	ENSP00000509770.1:p.Phe292Leu
ENST00000693763.1:n.1988C>G
ENST00000245407.8:c.828C>G MANE Select	ENSP00000245407.3:p.Phe276Leu
ENST00000245407.7:c.828C>G	ENSP00000245407.3:p.Phe276Leu
ENST00000415928.5:c.597C>G	ENSP00000388838.1:p.Phe199Leu
ENST00000435065.6:c.900C>G	ENSP00000402760.2:p.Phe300Leu
ENST00000437841.6:c.*143C>G	ENSP00000400553.1:n.*143C>G
ENST00000448810.5:c.176C>G
ENST00000461013.5:n.8250C>G
NM_001308122.1:c.900C>G	NP_001295051.1:p.Phe300Leu
NM_003060.3:c.828C>G	NP_003051.1:p.Phe276Leu
XM_011543590.1:c.210C>G	XP_011541892.1:p.Phe70Leu
XR_427718.1:n.1188C>G
XR_948290.1:n.1169C>G
XR_948291.1:n.1182C>G
XM_011543590.2:c.210C>G	XP_011541892.1:p.Phe70Leu
XM_017009778.2:c.300C>G	XP_016865267.1:p.Phe100Leu
XR_001742215.1:n.1169C>G
XR_001742216.1:n.1188C>G
XR_427718.2:n.1188C>G
XR_948290.2:n.1169C>G
XR_948291.2:n.1182C>G
NM_003060.4:c.828C>G MANE Select	NP_003051.1:p.Phe276Leu
NM_001308122.2:c.900C>G	NP_001295051.1:p.Phe300Leu