Canonical Allele Identifier: CA342668

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390725T>C , CM000667.2:g.132390725T>C	GRCh38
NC_000005.9:g.131726417T>C , CM000667.1:g.131726417T>C	GRCh37
NC_000005.8:g.131754316T>C	NCBI36
NG_008982.1:g.26017T>C
NG_008982.2:g.26022T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.929T>C	ENSP00000388838.2:p.Leu310Pro
ENST00000435065.7:c.1160T>C	ENSP00000402760.2:p.Leu387Pro
ENST00000448810.6:c.1053-51T>C	ENSP00000401860.2:n.1053-51T>C
ENST00000685543.1:n.1229T>C
ENST00000686757.1:c.*252T>C	ENSP00000510721.1:n.*252T>C
ENST00000687740.1:n.3773T>C
ENST00000688151.1:n.2398T>C
ENST00000689271.1:c.935T>C	ENSP00000510797.1:p.Leu312Pro
ENST00000690900.1:c.*252T>C	ENSP00000510703.1:n.*252T>C
ENST00000692212.1:n.2700T>C
ENST00000692355.1:c.341T>C
ENST00000692413.1:c.1070T>C	ENSP00000509374.1:p.Leu357Pro
ENST00000692825.1:c.1156T>C	ENSP00000509447.1:n.1156T>C
ENST00000693308.1:c.1136T>C	ENSP00000509770.1:p.Leu379Pro
ENST00000693763.1:n.2248T>C
ENST00000245407.8:c.1088T>C MANE Select	ENSP00000245407.3:p.Leu363Pro
ENST00000245407.7:c.1088T>C	ENSP00000245407.3:p.Leu363Pro
ENST00000435065.6:c.1160T>C	ENSP00000402760.2:p.Leu387Pro
ENST00000447841.5:c.111+1704T>C
ENST00000448810.5:c.401-51T>C
ENST00000461013.5:n.8510T>C
ENST00000475308.1:n.1766T>C
ENST00000479605.5:n.191T>C
NM_001308122.1:c.1160T>C	NP_001295051.1:p.Leu387Pro
NM_003060.3:c.1088T>C	NP_003051.1:p.Leu363Pro
XM_011543590.1:c.470T>C	XP_011541892.1:p.Leu157Pro
XR_427718.1:n.1448T>C
XR_948290.1:n.1393+1704T>C
XR_948291.1:n.1442T>C
XM_011543590.2:c.470T>C	XP_011541892.1:p.Leu157Pro
XM_017009778.2:c.560T>C	XP_016865267.1:p.Leu187Pro
XR_001742215.1:n.1394-51T>C
XR_001742216.1:n.1413-51T>C
XR_427718.2:n.1448T>C
XR_948290.2:n.1393+1704T>C
XR_948291.2:n.1442T>C
NM_003060.4:c.1088T>C MANE Select	NP_003051.1:p.Leu363Pro
NM_001308122.2:c.1160T>C	NP_001295051.1:p.Leu387Pro