Canonical Allele Identifier: CA1583149884

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390714T= , CM000667.2:g.132390714T=	GRCh38
NC_000005.9:g.131726406T= , CM000667.1:g.131726406T=	GRCh37
NC_000005.8:g.131754305T=	NCBI36
NG_008982.1:g.26006T=
NG_008982.2:g.26011T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.918T=	ENSP00000388838.2:p.Phe306=
ENST00000435065.7:c.1149T=	ENSP00000402760.2:p.Phe383=
ENST00000448810.6:c.1053-62T=	ENSP00000401860.2:n.1053-62T=
ENST00000685543.1:n.1218T=
ENST00000686757.1:c.*241T=	ENSP00000510721.1:n.*241T=
ENST00000687740.1:n.3762T=
ENST00000688151.1:n.2387T=
ENST00000689271.1:c.924T=	ENSP00000510797.1:p.Phe308=
ENST00000690900.1:c.*241T=	ENSP00000510703.1:n.*241T=
ENST00000692212.1:n.2689T=
ENST00000692355.1:c.330T=
ENST00000692413.1:c.1059T=	ENSP00000509374.1:p.Phe353=
ENST00000692825.1:c.1145T=	ENSP00000509447.1:n.1145T=
ENST00000693308.1:c.1125T=	ENSP00000509770.1:p.Phe375=
ENST00000693763.1:n.2237T=
ENST00000245407.8:c.1077T= MANE Select	ENSP00000245407.3:p.Phe359=
ENST00000245407.7:c.1077T=	ENSP00000245407.3:p.Phe359=
ENST00000435065.6:c.1149T=	ENSP00000402760.2:p.Phe383=
ENST00000447841.5:c.111+1693T=
ENST00000448810.5:c.401-62T=
ENST00000461013.5:n.8499T=
ENST00000475308.1:n.1755T=
ENST00000479605.5:n.180T=
NM_001308122.1:c.1149T=	NP_001295051.1:p.Phe383=
NM_003060.3:c.1077T=	NP_003051.1:p.Phe359=
XM_011543590.1:c.459T=	XP_011541892.1:p.Phe153=
XR_427718.1:n.1437T=
XR_948290.1:n.1393+1693T=
XR_948291.1:n.1431T=
XM_011543590.2:c.459T=	XP_011541892.1:p.Phe153=
XM_017009778.2:c.549T=	XP_016865267.1:p.Phe183=
XR_001742215.1:n.1394-62T=
XR_001742216.1:n.1413-62T=
XR_427718.2:n.1437T=
XR_948290.2:n.1393+1693T=
XR_948291.2:n.1431T=
NM_003060.4:c.1077T= MANE Select	NP_003051.1:p.Phe359=
NM_001308122.2:c.1149T=	NP_001295051.1:p.Phe383=