Canonical Allele Identifier: CA360807518

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726429A>C (hg19) ; chr5:g.132390737A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390737A>C , CM000667.2:g.132390737A>C	GRCh38
NC_000005.9:g.131726429A>C , CM000667.1:g.131726429A>C	GRCh37
NC_000005.8:g.131754328A>C	NCBI36
NG_008982.1:g.26029A>C
NG_008982.2:g.26034A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.941A>C	ENSP00000388838.2:p.Asn314Thr
ENST00000435065.7:c.1172A>C	ENSP00000402760.2:p.Asn391Thr
ENST00000448810.6:c.1053-39A>C	ENSP00000401860.2:n.1053-39A>C
ENST00000685543.1:n.1241A>C
ENST00000686757.1:c.*264A>C	ENSP00000510721.1:n.*264A>C
ENST00000687740.1:n.3785A>C
ENST00000688151.1:n.2410A>C
ENST00000689271.1:c.947A>C	ENSP00000510797.1:p.Asn316Thr
ENST00000690900.1:c.*264A>C	ENSP00000510703.1:n.*264A>C
ENST00000692212.1:n.2712A>C
ENST00000692355.1:c.353A>C
ENST00000692413.1:c.1082A>C	ENSP00000509374.1:p.Asn361Thr
ENST00000692825.1:c.1168A>C	ENSP00000509447.1:n.1168A>C
ENST00000693308.1:c.1148A>C	ENSP00000509770.1:p.Asn383Thr
ENST00000693763.1:n.2260A>C
ENST00000245407.8:c.1100A>C MANE Select	ENSP00000245407.3:p.Asn367Thr
ENST00000245407.7:c.1100A>C	ENSP00000245407.3:p.Asn367Thr
ENST00000435065.6:c.1172A>C	ENSP00000402760.2:p.Asn391Thr
ENST00000447841.5:c.112-1696A>C
ENST00000448810.5:c.401-39A>C
ENST00000461013.5:n.8522A>C
ENST00000475308.1:n.1778A>C
ENST00000479605.5:n.203A>C
NM_001308122.1:c.1172A>C	NP_001295051.1:p.Asn391Thr
NM_003060.3:c.1100A>C	NP_003051.1:p.Asn367Thr
XM_011543590.1:c.482A>C	XP_011541892.1:p.Asn161Thr
XR_427718.1:n.1460A>C
XR_948290.1:n.1394-1696A>C
XR_948291.1:n.1454A>C
XM_011543590.2:c.482A>C	XP_011541892.1:p.Asn161Thr
XM_017009778.2:c.572A>C	XP_016865267.1:p.Asn191Thr
XR_001742215.1:n.1394-39A>C
XR_001742216.1:n.1413-39A>C
XR_427718.2:n.1460A>C
XR_948290.2:n.1394-1696A>C
XR_948291.2:n.1454A>C
NM_003060.4:c.1100A>C MANE Select	NP_003051.1:p.Asn367Thr
NM_001308122.2:c.1172A>C	NP_001295051.1:p.Asn391Thr