Canonical Allele Identifier: CA1583149906

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390718C= , CM000667.2:g.132390718C=	GRCh38
NC_000005.9:g.131726410C= , CM000667.1:g.131726410C=	GRCh37
NC_000005.8:g.131754309C=	NCBI36
NG_008982.1:g.26010C=
NG_008982.2:g.26015C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.922C=	ENSP00000388838.2:p.Leu308=
ENST00000435065.7:c.1153C=	ENSP00000402760.2:p.Leu385=
ENST00000448810.6:c.1053-58C=	ENSP00000401860.2:n.1053-58C=
ENST00000685543.1:n.1222C=
ENST00000686757.1:c.*245C=	ENSP00000510721.1:n.*245C=
ENST00000687740.1:n.3766C=
ENST00000688151.1:n.2391C=
ENST00000689271.1:c.928C=	ENSP00000510797.1:p.Leu310=
ENST00000690900.1:c.*245C=	ENSP00000510703.1:n.*245C=
ENST00000692212.1:n.2693C=
ENST00000692355.1:c.334C=
ENST00000692413.1:c.1063C=	ENSP00000509374.1:p.Leu355=
ENST00000692825.1:c.1149C=	ENSP00000509447.1:n.1149C=
ENST00000693308.1:c.1129C=	ENSP00000509770.1:p.Leu377=
ENST00000693763.1:n.2241C=
ENST00000245407.8:c.1081C= MANE Select	ENSP00000245407.3:p.Leu361=
ENST00000245407.7:c.1081C=	ENSP00000245407.3:p.Leu361=
ENST00000435065.6:c.1153C=	ENSP00000402760.2:p.Leu385=
ENST00000447841.5:c.111+1697C=
ENST00000448810.5:c.401-58C=
ENST00000461013.5:n.8503C=
ENST00000475308.1:n.1759C=
ENST00000479605.5:n.184C=
NM_001308122.1:c.1153C=	NP_001295051.1:p.Leu385=
NM_003060.3:c.1081C=	NP_003051.1:p.Leu361=
XM_011543590.1:c.463C=	XP_011541892.1:p.Leu155=
XR_427718.1:n.1441C=
XR_948290.1:n.1393+1697C=
XR_948291.1:n.1435C=
XM_011543590.2:c.463C=	XP_011541892.1:p.Leu155=
XM_017009778.2:c.553C=	XP_016865267.1:p.Leu185=
XR_001742215.1:n.1394-58C=
XR_001742216.1:n.1413-58C=
XR_427718.2:n.1441C=
XR_948290.2:n.1393+1697C=
XR_948291.2:n.1435C=
NM_003060.4:c.1081C= MANE Select	NP_003051.1:p.Leu361=
NM_001308122.2:c.1153C=	NP_001295051.1:p.Leu385=