Canonical Allele Identifier: CA342637

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132384206T>C , CM000667.2:g.132384206T>C	GRCh38
NC_000005.9:g.131719898T>C , CM000667.1:g.131719898T>C	GRCh37
NC_000005.8:g.131747797T>C	NCBI36
NG_008982.1:g.19498T>C
NG_008982.2:g.19503T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.557T>C	ENSP00000388838.2:p.Leu186Pro
ENST00000435065.7:c.629T>C	ENSP00000402760.2:p.Leu210Pro
ENST00000448810.6:c.557T>C	ENSP00000401860.2:p.Leu186Pro
ENST00000686757.1:c.557T>C	ENSP00000510721.1:p.Leu186Pro
ENST00000687740.1:n.691T>C
ENST00000688151.1:n.1736T>C
ENST00000689271.1:c.557T>C	ENSP00000510797.1:p.Leu186Pro
ENST00000690900.1:c.557T>C	ENSP00000510703.1:p.Leu186Pro
ENST00000692355.1:c.109T>C
ENST00000692413.1:c.557T>C	ENSP00000509374.1:p.Leu186Pro
ENST00000692825.1:c.625T>C	ENSP00000509447.1:n.625T>C
ENST00000693308.1:c.557T>C	ENSP00000509770.1:p.Leu186Pro
ENST00000693763.1:n.691T>C
ENST00000245407.8:c.557T>C MANE Select	ENSP00000245407.3:p.Leu186Pro
ENST00000245407.7:c.557T>C	ENSP00000245407.3:p.Leu186Pro
ENST00000415928.5:c.326T>C	ENSP00000388838.1:p.Leu109Pro
ENST00000435065.6:c.629T>C	ENSP00000402760.2:p.Leu210Pro
ENST00000437841.6:c.394-1122T>C	ENSP00000400553.1:n.394-1122T>C
ENST00000461013.5:n.7979T>C
NM_001308122.1:c.629T>C	NP_001295051.1:p.Leu210Pro
NM_003060.3:c.557T>C	NP_003051.1:p.Leu186Pro
XM_011543590.1:c.-75T>C	XP_011541892.1:n.-75T>C
XR_427718.1:n.898T>C
XR_948290.1:n.898T>C
XR_948291.1:n.898T>C
XM_011543590.2:c.-75T>C	XP_011541892.1:n.-75T>C
XM_017009778.2:c.29T>C	XP_016865267.1:p.Leu10Pro
XR_001742215.1:n.898T>C
XR_001742216.1:n.898T>C
XR_427718.2:n.898T>C
XR_948290.2:n.898T>C
XR_948291.2:n.898T>C
NM_003060.4:c.557T>C MANE Select	NP_003051.1:p.Leu186Pro
NM_001308122.2:c.629T>C	NP_001295051.1:p.Leu210Pro