Canonical Allele Identifier: CA1583144535

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393747T= , CM000667.2:g.132393747T=	GRCh38
NC_000005.9:g.131729439T= , CM000667.1:g.131729439T=	GRCh37
NC_000005.8:g.131757338T=	NCBI36
NG_008982.1:g.29039T=
NG_008982.2:g.29044T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-438T=	ENSP00000388838.2:n.1292-438T=
ENST00000435065.7:c.1594T=	ENSP00000402760.2:p.Phe532=
ENST00000448810.6:c.*374T=	ENSP00000401860.2:n.*374T=
ENST00000685543.1:n.1663T=
ENST00000686757.1:c.*686T=	ENSP00000510721.1:n.*686T=
ENST00000686868.1:n.514T=
ENST00000687740.1:n.4207T=
ENST00000688151.1:n.2832T=
ENST00000689271.1:c.1369T=	ENSP00000510797.1:p.Phe457=
ENST00000690900.1:c.*686T=	ENSP00000510703.1:n.*686T=
ENST00000692212.1:n.4662T=
ENST00000692355.1:c.775T=
ENST00000692413.1:c.1504T=	ENSP00000509374.1:p.Phe502=
ENST00000692825.1:c.1590T=	ENSP00000509447.1:n.1590T=
ENST00000693308.1:c.1570T=	ENSP00000509770.1:p.Phe524=
ENST00000693763.1:n.2682T=
ENST00000245407.8:c.1522T= MANE Select	ENSP00000245407.3:p.Phe508=
ENST00000245407.7:c.1522T=	ENSP00000245407.3:p.Phe508=
ENST00000435065.6:c.1594T=	ENSP00000402760.2:p.Phe532=
ENST00000447841.5:c.366T=
ENST00000448810.5:c.784T=
ENST00000461013.5:n.8944T=
ENST00000475308.1:n.2200T=
NM_001308122.1:c.1594T=	NP_001295051.1:p.Phe532=
NM_003060.3:c.1522T=	NP_003051.1:p.Phe508=
XM_011543590.1:c.904T=	XP_011541892.1:p.Phe302=
XR_948290.1:n.1648T=
XM_011543590.2:c.904T=	XP_011541892.1:p.Phe302=
XM_017009778.2:c.994T=	XP_016865267.1:p.Phe332=
XR_001742215.1:n.1777T=
XR_001742216.1:n.1796T=
XR_427718.2:n.1882T=
XR_948290.2:n.1648T=
XR_948291.2:n.1876T=
NM_003060.4:c.1522T= MANE Select	NP_003051.1:p.Phe508=
NM_001308122.2:c.1594T=	NP_001295051.1:p.Phe532=