Canonical Allele Identifier: CA360803550

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132378411C>T , CM000667.2:g.132378411C>T	GRCh38
NC_000005.9:g.131714103C>T , CM000667.1:g.131714103C>T	GRCh37
NC_000005.8:g.131742002C>T	NCBI36
NG_008982.1:g.13703C>T
NG_008982.2:g.13708C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.427C>T MANE Select	NP_003051.1:p.Pro143Ser
ENST00000245407.8:c.427C>T MANE Select	ENSP00000245407.3:p.Pro143Ser
NM_001308122.1:c.499C>T	NP_001295051.1:p.Pro167Ser
NM_001308122.2:c.499C>T	NP_001295051.1:p.Pro167Ser
NM_003060.3:c.427C>T	NP_003051.1:p.Pro143Ser
ENST00000245407.7:c.427C>T	ENSP00000245407.3:p.Pro143Ser
ENST00000415928.5:c.196C>T	ENSP00000388838.1:p.Pro66Ser
ENST00000415928.6:c.427C>T	ENSP00000388838.2:p.Pro143Ser
ENST00000435065.6:c.499C>T	ENSP00000402760.2:p.Pro167Ser
ENST00000435065.7:c.499C>T	ENSP00000402760.2:p.Pro167Ser
ENST00000437841.6:c.394-6917C>T	ENSP00000400553.1:n.394-6917C>T
ENST00000448810.6:c.427C>T	ENSP00000401860.2:p.Pro143Ser
ENST00000461013.5:n.2184C>T
ENST00000686757.1:c.427C>T	ENSP00000510721.1:p.Pro143Ser
ENST00000687740.1:n.561C>T
ENST00000689271.1:c.427C>T	ENSP00000510797.1:p.Pro143Ser
ENST00000690900.1:c.427C>T	ENSP00000510703.1:p.Pro143Ser
ENST00000692413.1:c.427C>T	ENSP00000509374.1:p.Pro143Ser
ENST00000692825.1:c.495C>T	ENSP00000509447.1:n.495C>T
ENST00000693308.1:c.427C>T	ENSP00000509770.1:p.Pro143Ser
ENST00000693763.1:n.561C>T
XM_011543590.2:c.-205C>T	XP_011541892.1:n.-205C>T
XM_017009778.2:c.-31-5736C>T	XP_016865267.1:n.-31-5736C>T
XR_001742215.1:n.768C>T
XR_001742216.1:n.768C>T
XR_427718.1:n.768C>T
XR_427718.2:n.768C>T
XR_948290.1:n.768C>T
XR_948290.2:n.768C>T
XR_948291.1:n.768C>T
XR_948291.2:n.768C>T