Canonical Allele Identifier: CA1583144568

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393774C= , CM000667.2:g.132393774C=	GRCh38
NC_000005.9:g.131729466C= , CM000667.1:g.131729466C=	GRCh37
NC_000005.8:g.131757365C=	NCBI36
NG_008982.1:g.29066C=
NG_008982.2:g.29071C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-411C=	ENSP00000388838.2:n.1292-411C=
ENST00000435065.7:c.1621C=	ENSP00000402760.2:p.Leu541=
ENST00000448810.6:c.*401C=	ENSP00000401860.2:n.*401C=
ENST00000685543.1:n.1690C=
ENST00000686757.1:c.*713C=	ENSP00000510721.1:n.*713C=
ENST00000686868.1:n.541C=
ENST00000687740.1:n.4234C=
ENST00000688151.1:n.2859C=
ENST00000689271.1:c.1396C=	ENSP00000510797.1:p.Leu466=
ENST00000690900.1:c.*713C=	ENSP00000510703.1:n.*713C=
ENST00000692212.1:n.4689C=
ENST00000692355.1:c.802C=
ENST00000692413.1:c.1531C=	ENSP00000509374.1:p.Leu511=
ENST00000692825.1:c.1617C=	ENSP00000509447.1:n.1617C=
ENST00000693308.1:c.1597C=	ENSP00000509770.1:p.Leu533=
ENST00000693763.1:n.2709C=
ENST00000245407.8:c.1549C= MANE Select	ENSP00000245407.3:p.Leu517=
ENST00000245407.7:c.1549C=	ENSP00000245407.3:p.Leu517=
ENST00000435065.6:c.1621C=	ENSP00000402760.2:p.Leu541=
ENST00000447841.5:c.393C=
ENST00000448810.5:c.811C=
ENST00000461013.5:n.8971C=
ENST00000475308.1:n.2227C=
NM_001308122.1:c.1621C=	NP_001295051.1:p.Leu541=
NM_003060.3:c.1549C=	NP_003051.1:p.Leu517=
XM_011543590.1:c.931C=	XP_011541892.1:p.Leu311=
XR_948290.1:n.1675C=
XM_011543590.2:c.931C=	XP_011541892.1:p.Leu311=
XM_017009778.2:c.1021C=	XP_016865267.1:p.Leu341=
XR_001742215.1:n.1804C=
XR_001742216.1:n.1823C=
XR_427718.2:n.1909C=
XR_948290.2:n.1675C=
XR_948291.2:n.1903C=
NM_003060.4:c.1549C= MANE Select	NP_003051.1:p.Leu517=
NM_001308122.2:c.1621C=	NP_001295051.1:p.Leu541=