Canonical Allele Identifier: CA360805507

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722721A>C (hg19) ; chr5:g.132387029A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387029A>C , CM000667.2:g.132387029A>C	GRCh38
NC_000005.9:g.131722721A>C , CM000667.1:g.131722721A>C	GRCh37
NC_000005.8:g.131750620A>C	NCBI36
NG_008982.1:g.22321A>C
NG_008982.2:g.22326A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.670A>C	ENSP00000388838.2:p.Ile224Leu
ENST00000435065.7:c.901A>C	ENSP00000402760.2:p.Ile301Leu
ENST00000448810.6:c.829A>C	ENSP00000401860.2:p.Ile277Leu
ENST00000686757.1:c.848A>C	ENSP00000510721.1:p.His283Pro
ENST00000687740.1:n.3514A>C
ENST00000688151.1:n.2139A>C
ENST00000689271.1:c.676A>C	ENSP00000510797.1:p.Ile226Leu
ENST00000690900.1:c.800A>C	ENSP00000510703.1:p.His267Pro
ENST00000692212.1:n.773A>C
ENST00000692355.1:c.205-1892A>C
ENST00000692413.1:c.844-33A>C	ENSP00000509374.1:n.844-33A>C
ENST00000692825.1:c.897A>C	ENSP00000509447.1:n.897A>C
ENST00000693308.1:c.877A>C	ENSP00000509770.1:p.Ile293Leu
ENST00000693763.1:n.1989A>C
ENST00000245407.8:c.829A>C MANE Select	ENSP00000245407.3:p.Ile277Leu
ENST00000245407.7:c.829A>C	ENSP00000245407.3:p.Ile277Leu
ENST00000415928.5:c.598A>C	ENSP00000388838.1:p.Ile200Leu
ENST00000435065.6:c.901A>C	ENSP00000402760.2:p.Ile301Leu
ENST00000437841.6:c.*144A>C	ENSP00000400553.1:n.*144A>C
ENST00000448810.5:c.177A>C
ENST00000461013.5:n.8251A>C
NM_001308122.1:c.901A>C	NP_001295051.1:p.Ile301Leu
NM_003060.3:c.829A>C	NP_003051.1:p.Ile277Leu
XM_011543590.1:c.211A>C	XP_011541892.1:p.Ile71Leu
XR_427718.1:n.1189A>C
XR_948290.1:n.1170A>C
XR_948291.1:n.1183A>C
XM_011543590.2:c.211A>C	XP_011541892.1:p.Ile71Leu
XM_017009778.2:c.301A>C	XP_016865267.1:p.Ile101Leu
XR_001742215.1:n.1170A>C
XR_001742216.1:n.1189A>C
XR_427718.2:n.1189A>C
XR_948290.2:n.1170A>C
XR_948291.2:n.1183A>C
NM_003060.4:c.829A>C MANE Select	NP_003051.1:p.Ile277Leu
NM_001308122.2:c.901A>C	NP_001295051.1:p.Ile301Leu