Canonical Allele Identifier: CA1583149864

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390712T= , CM000667.2:g.132390712T=	GRCh38
NC_000005.9:g.131726404T= , CM000667.1:g.131726404T=	GRCh37
NC_000005.8:g.131754303T=	NCBI36
NG_008982.1:g.26004T=
NG_008982.2:g.26009T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.916T=	ENSP00000388838.2:p.Phe306=
ENST00000435065.7:c.1147T=	ENSP00000402760.2:p.Phe383=
ENST00000448810.6:c.1053-64T=	ENSP00000401860.2:n.1053-64T=
ENST00000685543.1:n.1216T=
ENST00000686757.1:c.*239T=	ENSP00000510721.1:n.*239T=
ENST00000687740.1:n.3760T=
ENST00000688151.1:n.2385T=
ENST00000689271.1:c.922T=	ENSP00000510797.1:p.Phe308=
ENST00000690900.1:c.*239T=	ENSP00000510703.1:n.*239T=
ENST00000692212.1:n.2687T=
ENST00000692355.1:c.328T=
ENST00000692413.1:c.1057T=	ENSP00000509374.1:p.Phe353=
ENST00000692825.1:c.1143T=	ENSP00000509447.1:n.1143T=
ENST00000693308.1:c.1123T=	ENSP00000509770.1:p.Phe375=
ENST00000693763.1:n.2235T=
ENST00000245407.8:c.1075T= MANE Select	ENSP00000245407.3:p.Phe359=
ENST00000245407.7:c.1075T=	ENSP00000245407.3:p.Phe359=
ENST00000435065.6:c.1147T=	ENSP00000402760.2:p.Phe383=
ENST00000447841.5:c.111+1691T=
ENST00000448810.5:c.401-64T=
ENST00000461013.5:n.8497T=
ENST00000475308.1:n.1753T=
ENST00000479605.5:n.178T=
NM_001308122.1:c.1147T=	NP_001295051.1:p.Phe383=
NM_003060.3:c.1075T=	NP_003051.1:p.Phe359=
XM_011543590.1:c.457T=	XP_011541892.1:p.Phe153=
XR_427718.1:n.1435T=
XR_948290.1:n.1393+1691T=
XR_948291.1:n.1429T=
XM_011543590.2:c.457T=	XP_011541892.1:p.Phe153=
XM_017009778.2:c.547T=	XP_016865267.1:p.Phe183=
XR_001742215.1:n.1394-64T=
XR_001742216.1:n.1413-64T=
XR_427718.2:n.1435T=
XR_948290.2:n.1393+1691T=
XR_948291.2:n.1429T=
NM_003060.4:c.1075T= MANE Select	NP_003051.1:p.Phe359=
NM_001308122.2:c.1147T=	NP_001295051.1:p.Phe383=