Canonical Allele Identifier: CA360807829

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726577C>G (hg19) ; chr5:g.132390885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390885C>G , CM000667.2:g.132390885C>G	GRCh38
NC_000005.9:g.131726577C>G , CM000667.1:g.131726577C>G	GRCh37
NC_000005.8:g.131754476C>G	NCBI36
NG_008982.1:g.26177C>G
NG_008982.2:g.26182C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1089C>G	ENSP00000388838.2:p.Phe363Leu
ENST00000435065.7:c.1320C>G	ENSP00000402760.2:p.Phe440Leu
ENST00000448810.6:c.*100C>G	ENSP00000401860.2:n.*100C>G
ENST00000685543.1:n.1389C>G
ENST00000686757.1:c.*412C>G	ENSP00000510721.1:n.*412C>G
ENST00000687740.1:n.3933C>G
ENST00000688151.1:n.2558C>G
ENST00000689271.1:c.1095C>G	ENSP00000510797.1:p.Phe365Leu
ENST00000690900.1:c.*412C>G	ENSP00000510703.1:n.*412C>G
ENST00000692212.1:n.2860C>G
ENST00000692355.1:c.501C>G
ENST00000692413.1:c.1230C>G	ENSP00000509374.1:p.Phe410Leu
ENST00000692825.1:c.1316C>G	ENSP00000509447.1:n.1316C>G
ENST00000693308.1:c.1296C>G	ENSP00000509770.1:p.Phe432Leu
ENST00000693763.1:n.2408C>G
ENST00000245407.8:c.1248C>G MANE Select	ENSP00000245407.3:p.Phe416Leu
ENST00000245407.7:c.1248C>G	ENSP00000245407.3:p.Phe416Leu
ENST00000435065.6:c.1320C>G	ENSP00000402760.2:p.Phe440Leu
ENST00000447841.5:c.112-1548C>G
ENST00000448810.5:c.510C>G
ENST00000461013.5:n.8670C>G
ENST00000475308.1:n.1926C>G
ENST00000479605.5:n.351C>G
NM_001308122.1:c.1320C>G	NP_001295051.1:p.Phe440Leu
NM_003060.3:c.1248C>G	NP_003051.1:p.Phe416Leu
XM_011543590.1:c.630C>G	XP_011541892.1:p.Phe210Leu
XR_427718.1:n.1608C>G
XR_948290.1:n.1394-1548C>G
XR_948291.1:n.1602C>G
XM_011543590.2:c.630C>G	XP_011541892.1:p.Phe210Leu
XM_017009778.2:c.720C>G	XP_016865267.1:p.Phe240Leu
XR_001742215.1:n.1503C>G
XR_001742216.1:n.1522C>G
XR_427718.2:n.1608C>G
XR_948290.2:n.1394-1548C>G
XR_948291.2:n.1602C>G
NM_003060.4:c.1248C>G MANE Select	NP_003051.1:p.Phe416Leu
NM_001308122.2:c.1320C>G	NP_001295051.1:p.Phe440Leu