Canonical Allele Identifier: CA446330215

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721108A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385416A>C , CM000667.2:g.132385416A>C	GRCh38
NC_000005.9:g.131721108A>C , CM000667.1:g.131721108A>C	GRCh37
NC_000005.8:g.131749007A>C	NCBI36
NG_008982.1:g.20708A>C
NG_008982.2:g.20713A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1102A>C	ENSP00000388838.2:n.665+1102A>C
ENST00000435065.7:c.813A>C	ENSP00000402760.2:p.Pro271=
ENST00000448810.6:c.741A>C	ENSP00000401860.2:p.Pro247=
ENST00000686757.1:c.760A>C	ENSP00000510721.1:p.Thr254Pro
ENST00000687740.1:n.1901A>C
ENST00000688151.1:n.1933A>C
ENST00000689271.1:c.671+1096A>C	ENSP00000510797.1:n.671+1096A>C
ENST00000690900.1:c.712A>C	ENSP00000510703.1:p.Thr238Pro
ENST00000692212.1:n.567A>C
ENST00000692355.1:c.204+1115A>C
ENST00000692413.1:c.760A>C	ENSP00000509374.1:p.Thr254Pro
ENST00000692825.1:c.809A>C	ENSP00000509447.1:n.809A>C
ENST00000693308.1:c.754A>C	ENSP00000509770.1:p.Thr252Pro
ENST00000693763.1:n.1901A>C
ENST00000245407.8:c.741A>C MANE Select	ENSP00000245407.3:p.Pro247=
ENST00000245407.7:c.741A>C	ENSP00000245407.3:p.Pro247=
ENST00000415928.5:c.510A>C	ENSP00000388838.1:p.Pro170=
ENST00000435065.6:c.813A>C	ENSP00000402760.2:p.Pro271=
ENST00000437841.6:c.*56A>C	ENSP00000400553.1:n.*56A>C
ENST00000448810.5:c.89A>C
ENST00000461013.5:n.8163A>C
NM_001308122.1:c.813A>C	NP_001295051.1:p.Pro271=
NM_003060.3:c.741A>C	NP_003051.1:p.Pro247=
XM_011543590.1:c.123A>C	XP_011541892.1:p.Pro41=
XR_427718.1:n.1101A>C
XR_948290.1:n.1082A>C
XR_948291.1:n.1095A>C
XM_011543590.2:c.123A>C	XP_011541892.1:p.Pro41=
XM_017009778.2:c.213A>C	XP_016865267.1:p.Pro71=
XR_001742215.1:n.1082A>C
XR_001742216.1:n.1101A>C
XR_427718.2:n.1101A>C
XR_948290.2:n.1082A>C
XR_948291.2:n.1095A>C
NM_003060.4:c.741A>C MANE Select	NP_003051.1:p.Pro247=
NM_001308122.2:c.813A>C	NP_001295051.1:p.Pro271=