Canonical Allele Identifier: CA446330242

Gene: SLC22A5

Linked Data

• dbSNP Id: rs1561571523
• MyVariant Identifiers: chr5:g.131721117T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385425T>C , CM000667.2:g.132385425T>C	GRCh38
NC_000005.9:g.131721117T>C , CM000667.1:g.131721117T>C	GRCh37
NC_000005.8:g.131749016T>C	NCBI36
NG_008982.1:g.20717T>C
NG_008982.2:g.20722T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1111T>C	ENSP00000388838.2:n.665+1111T>C
ENST00000435065.7:c.822T>C	ENSP00000402760.2:p.Ala274=
ENST00000448810.6:c.750T>C	ENSP00000401860.2:p.Ala250=
ENST00000686757.1:c.769T>C	ENSP00000510721.1:p.Leu257=
ENST00000687740.1:n.1910T>C
ENST00000688151.1:n.1942T>C
ENST00000689271.1:c.671+1105T>C	ENSP00000510797.1:n.671+1105T>C
ENST00000690900.1:c.721T>C	ENSP00000510703.1:p.Leu241=
ENST00000692212.1:n.576T>C
ENST00000692355.1:c.204+1124T>C
ENST00000692413.1:c.769T>C	ENSP00000509374.1:p.Leu257=
ENST00000692825.1:c.818T>C	ENSP00000509447.1:n.818T>C
ENST00000693308.1:c.763T>C	ENSP00000509770.1:p.Leu255=
ENST00000693763.1:n.1910T>C
ENST00000245407.8:c.750T>C MANE Select	ENSP00000245407.3:p.Ala250=
ENST00000245407.7:c.750T>C	ENSP00000245407.3:p.Ala250=
ENST00000415928.5:c.519T>C	ENSP00000388838.1:p.Ala173=
ENST00000435065.6:c.822T>C	ENSP00000402760.2:p.Ala274=
ENST00000437841.6:c.*65T>C	ENSP00000400553.1:n.*65T>C
ENST00000448810.5:c.98T>C
ENST00000461013.5:n.8172T>C
NM_001308122.1:c.822T>C	NP_001295051.1:p.Ala274=
NM_003060.3:c.750T>C	NP_003051.1:p.Ala250=
XM_011543590.1:c.132T>C	XP_011541892.1:p.Ala44=
XR_427718.1:n.1110T>C
XR_948290.1:n.1091T>C
XR_948291.1:n.1104T>C
XM_011543590.2:c.132T>C	XP_011541892.1:p.Ala44=
XM_017009778.2:c.222T>C	XP_016865267.1:p.Ala74=
XR_001742215.1:n.1091T>C
XR_001742216.1:n.1110T>C
XR_427718.2:n.1110T>C
XR_948290.2:n.1091T>C
XR_948291.2:n.1104T>C
NM_003060.4:c.750T>C MANE Select	NP_003051.1:p.Ala250=
NM_001308122.2:c.822T>C	NP_001295051.1:p.Ala274=