Canonical Allele Identifier: CA1583144515

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393738C= , CM000667.2:g.132393738C=	GRCh38
NC_000005.9:g.131729430C= , CM000667.1:g.131729430C=	GRCh37
NC_000005.8:g.131757329C=	NCBI36
NG_008982.1:g.29030C=
NG_008982.2:g.29035C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-447C=	ENSP00000388838.2:n.1292-447C=
ENST00000435065.7:c.1585C=	ENSP00000402760.2:p.Leu529=
ENST00000448810.6:c.*365C=	ENSP00000401860.2:n.*365C=
ENST00000685543.1:n.1654C=
ENST00000686757.1:c.*677C=	ENSP00000510721.1:n.*677C=
ENST00000686868.1:n.505C=
ENST00000687740.1:n.4198C=
ENST00000688151.1:n.2823C=
ENST00000689271.1:c.1360C=	ENSP00000510797.1:p.Leu454=
ENST00000690900.1:c.*677C=	ENSP00000510703.1:n.*677C=
ENST00000692212.1:n.4653C=
ENST00000692355.1:c.766C=
ENST00000692413.1:c.1495C=	ENSP00000509374.1:p.Leu499=
ENST00000692825.1:c.1581C=	ENSP00000509447.1:n.1581C=
ENST00000693308.1:c.1561C=	ENSP00000509770.1:p.Leu521=
ENST00000693763.1:n.2673C=
ENST00000245407.8:c.1513C= MANE Select	ENSP00000245407.3:p.Leu505=
ENST00000245407.7:c.1513C=	ENSP00000245407.3:p.Leu505=
ENST00000435065.6:c.1585C=	ENSP00000402760.2:p.Leu529=
ENST00000447841.5:c.357C=
ENST00000448810.5:c.775C=
ENST00000461013.5:n.8935C=
ENST00000475308.1:n.2191C=
NM_001308122.1:c.1585C=	NP_001295051.1:p.Leu529=
NM_003060.3:c.1513C=	NP_003051.1:p.Leu505=
XM_011543590.1:c.895C=	XP_011541892.1:p.Leu299=
XR_948290.1:n.1639C=
XM_011543590.2:c.895C=	XP_011541892.1:p.Leu299=
XM_017009778.2:c.985C=	XP_016865267.1:p.Leu329=
XR_001742215.1:n.1768C=
XR_001742216.1:n.1787C=
XR_427718.2:n.1873C=
XR_948290.2:n.1639C=
XR_948291.2:n.1867C=
NM_003060.4:c.1513C= MANE Select	NP_003051.1:p.Leu505=
NM_001308122.2:c.1585C=	NP_001295051.1:p.Leu529=