Canonical Allele Identifier: CA3403970
Gene: SLC22A5 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385466C>G , CM000667.2:g.132385466C>G GRCh38
NC_000005.9:g.131721158C>G , CM000667.1:g.131721158C>G GRCh37
NC_000005.8:g.131749057C>G NCBI36
NG_008982.1:g.20758C>G
NG_008982.2:g.20763C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1152C>G ENSP00000388838.2:n.665+1152C>G
ENST00000435065.7:c.863C>G ENSP00000402760.2:p.Thr288Arg
ENST00000448810.6:c.791C>G ENSP00000401860.2:p.Thr264Arg
ENST00000686757.1:c.810C>G ENSP00000510721.1:p.Asp270Glu
ENST00000687740.1:n.1951C>G
ENST00000688151.1:n.1983C>G
ENST00000689271.1:c.671+1146C>G ENSP00000510797.1:n.671+1146C>G
ENST00000690900.1:c.762C>G ENSP00000510703.1:p.Asp254Glu
ENST00000692212.1:n.617C>G
ENST00000692355.1:c.204+1165C>G
ENST00000692413.1:c.810C>G ENSP00000509374.1:p.Asp270Glu
ENST00000692825.1:c.859C>G ENSP00000509447.1:n.859C>G
ENST00000693308.1:c.804C>G ENSP00000509770.1:p.Asp268Glu
ENST00000693763.1:n.1951C>G
ENST00000245407.8:c.791C>G MANE Select ENSP00000245407.3:p.Thr264Arg
ENST00000245407.7:c.791C>G ENSP00000245407.3:p.Thr264Arg
ENST00000415928.5:c.560C>G ENSP00000388838.1:p.Thr187Arg
ENST00000435065.6:c.863C>G ENSP00000402760.2:p.Thr288Arg
ENST00000437841.6:c.*106C>G ENSP00000400553.1:n.*106C>G
ENST00000448810.5:c.139C>G
ENST00000461013.5:n.8213C>G
NM_001308122.1:c.863C>G NP_001295051.1:p.Thr288Arg
NM_003060.3:c.791C>G NP_003051.1:p.Thr264Arg
XM_011543590.1:c.173C>G XP_011541892.1:p.Thr58Arg
XR_427718.1:n.1151C>G
XR_948290.1:n.1132C>G
XR_948291.1:n.1145C>G
XM_011543590.2:c.173C>G XP_011541892.1:p.Thr58Arg
XM_017009778.2:c.263C>G XP_016865267.1:p.Thr88Arg
XR_001742215.1:n.1132C>G
XR_001742216.1:n.1151C>G
XR_427718.2:n.1151C>G
XR_948290.2:n.1132C>G
XR_948291.2:n.1145C>G
NM_003060.4:c.791C>G MANE Select NP_003051.1:p.Thr264Arg
NM_001308122.2:c.863C>G NP_001295051.1:p.Thr288Arg