Canonical Allele Identifier: CA3404179

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393687C>T , CM000667.2:g.132393687C>T	GRCh38
NC_000005.9:g.131729379C>T , CM000667.1:g.131729379C>T	GRCh37
NC_000005.8:g.131757278C>T	NCBI36
NG_008982.1:g.28979C>T
NG_008982.2:g.28984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-498C>T	ENSP00000388838.2:n.1292-498C>T
ENST00000435065.7:c.1534C>T	ENSP00000402760.2:p.Arg512Cys
ENST00000448810.6:c.*314C>T	ENSP00000401860.2:n.*314C>T
ENST00000685543.1:n.1603C>T
ENST00000686757.1:c.*626C>T	ENSP00000510721.1:n.*626C>T
ENST00000686868.1:n.454C>T
ENST00000687740.1:n.4147C>T
ENST00000688151.1:n.2772C>T
ENST00000689271.1:c.1309C>T	ENSP00000510797.1:p.Arg437Cys
ENST00000690900.1:c.*626C>T	ENSP00000510703.1:n.*626C>T
ENST00000692212.1:n.4602C>T
ENST00000692355.1:c.715C>T
ENST00000692413.1:c.1444C>T	ENSP00000509374.1:p.Arg482Cys
ENST00000692825.1:c.1530C>T	ENSP00000509447.1:n.1530C>T
ENST00000693308.1:c.1510C>T	ENSP00000509770.1:p.Arg504Cys
ENST00000693763.1:n.2622C>T
ENST00000245407.8:c.1462C>T MANE Select	ENSP00000245407.3:p.Arg488Cys
ENST00000245407.7:c.1462C>T	ENSP00000245407.3:p.Arg488Cys
ENST00000435065.6:c.1534C>T	ENSP00000402760.2:p.Arg512Cys
ENST00000447841.5:c.306C>T
ENST00000448810.5:c.724C>T
ENST00000461013.5:n.8884C>T
ENST00000475308.1:n.2140C>T
NM_001308122.1:c.1534C>T	NP_001295051.1:p.Arg512Cys
NM_003060.3:c.1462C>T	NP_003051.1:p.Arg488Cys
XM_011543590.1:c.844C>T	XP_011541892.1:p.Arg282Cys
XR_948290.1:n.1588C>T
XM_011543590.2:c.844C>T	XP_011541892.1:p.Arg282Cys
XM_017009778.2:c.934C>T	XP_016865267.1:p.Arg312Cys
XR_001742215.1:n.1717C>T
XR_001742216.1:n.1736C>T
XR_427718.2:n.1822C>T
XR_948290.2:n.1588C>T
XR_948291.2:n.1816C>T
NM_003060.4:c.1462C>T MANE Select	NP_003051.1:p.Arg488Cys
NM_001308122.2:c.1534C>T	NP_001295051.1:p.Arg512Cys