Canonical Allele Identifier: CA360805088

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385403A>C , CM000667.2:g.132385403A>C	GRCh38
NC_000005.9:g.131721095A>C , CM000667.1:g.131721095A>C	GRCh37
NC_000005.8:g.131748994A>C	NCBI36
NG_008982.1:g.20695A>C
NG_008982.2:g.20700A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.728A>C MANE Select	NP_003051.1:p.Tyr243Ser
ENST00000245407.8:c.728A>C MANE Select	ENSP00000245407.3:p.Tyr243Ser
NM_001308122.1:c.800A>C	NP_001295051.1:p.Tyr267Ser
NM_001308122.2:c.800A>C	NP_001295051.1:p.Tyr267Ser
NM_003060.3:c.728A>C	NP_003051.1:p.Tyr243Ser
ENST00000245407.7:c.728A>C	ENSP00000245407.3:p.Tyr243Ser
ENST00000415928.5:c.497A>C	ENSP00000388838.1:p.Tyr166Ser
ENST00000415928.6:c.665+1089A>C	ENSP00000388838.2:n.665+1089A>C
ENST00000435065.6:c.800A>C	ENSP00000402760.2:p.Tyr267Ser
ENST00000435065.7:c.800A>C	ENSP00000402760.2:p.Tyr267Ser
ENST00000437841.6:c.*43A>C	ENSP00000400553.1:n.*43A>C
ENST00000448810.5:c.76A>C
ENST00000448810.6:c.728A>C	ENSP00000401860.2:p.Tyr243Ser
ENST00000461013.5:n.8150A>C
ENST00000686757.1:c.747A>C	ENSP00000510721.1:p.Leu249=
ENST00000687740.1:n.1888A>C
ENST00000688151.1:n.1920A>C
ENST00000689271.1:c.671+1083A>C	ENSP00000510797.1:n.671+1083A>C
ENST00000690900.1:c.699A>C	ENSP00000510703.1:p.Leu233=
ENST00000692212.1:n.554A>C
ENST00000692355.1:c.204+1102A>C
ENST00000692413.1:c.747A>C	ENSP00000509374.1:p.Leu249=
ENST00000692825.1:c.796A>C	ENSP00000509447.1:n.796A>C
ENST00000693308.1:c.741A>C	ENSP00000509770.1:p.Leu247=
ENST00000693763.1:n.1888A>C
XM_011543590.1:c.110A>C	XP_011541892.1:p.Tyr37Ser
XM_011543590.2:c.110A>C	XP_011541892.1:p.Tyr37Ser
XM_017009778.2:c.200A>C	XP_016865267.1:p.Tyr67Ser
XR_001742215.1:n.1069A>C
XR_001742216.1:n.1088A>C
XR_427718.1:n.1088A>C
XR_427718.2:n.1088A>C
XR_948290.1:n.1069A>C
XR_948290.2:n.1069A>C
XR_948291.1:n.1082A>C
XR_948291.2:n.1082A>C