Canonical Allele Identifier: CA1583144658
Community Standard Title: NM_003060.4(SLC22A5):c.760C= (p.Arg254=)
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385435C= , CM000667.2:g.132385435C= GRCh38
NC_000005.9:g.131721127C= , CM000667.1:g.131721127C= GRCh37
NC_000005.8:g.131749026C= NCBI36
NG_008982.1:g.20727C=
NG_008982.2:g.20732C=

Transcript Alleles

HGVS Amino-acid Change
NM_003060.4:c.760C= MANE Select NP_003051.1:p.Arg254=
ENST00000245407.8:c.760C= MANE Select ENSP00000245407.3:p.Arg254=
NM_001308122.1:c.832C= NP_001295051.1:p.Arg278=
NM_001308122.2:c.832C= NP_001295051.1:p.Arg278=
NM_003060.3:c.760C= NP_003051.1:p.Arg254=
ENST00000245407.7:c.760C= ENSP00000245407.3:p.Arg254=
ENST00000415928.5:c.529C= ENSP00000388838.1:p.Arg177=
ENST00000415928.6:c.665+1121C= ENSP00000388838.2:n.665+1121C=
ENST00000435065.6:c.832C= ENSP00000402760.2:p.Arg278=
ENST00000435065.7:c.832C= ENSP00000402760.2:p.Arg278=
ENST00000437841.6:c.*75C= ENSP00000400553.1:n.*75C=
ENST00000448810.5:c.108C=
ENST00000448810.6:c.760C= ENSP00000401860.2:p.Arg254=
ENST00000461013.5:n.8182C=
ENST00000686757.1:c.779C= ENSP00000510721.1:p.Pro260=
ENST00000687740.1:n.1920C=
ENST00000688151.1:n.1952C=
ENST00000689271.1:c.671+1115C= ENSP00000510797.1:n.671+1115C=
ENST00000690900.1:c.731C= ENSP00000510703.1:p.Pro244=
ENST00000692212.1:n.586C=
ENST00000692355.1:c.204+1134C=
ENST00000692413.1:c.779C= ENSP00000509374.1:p.Pro260=
ENST00000692825.1:c.828C= ENSP00000509447.1:n.828C=
ENST00000693308.1:c.773C= ENSP00000509770.1:p.Pro258=
ENST00000693763.1:n.1920C=
XM_011543590.1:c.142C= XP_011541892.1:p.Arg48=
XM_011543590.2:c.142C= XP_011541892.1:p.Arg48=
XM_017009778.2:c.232C= XP_016865267.1:p.Arg78=
XR_001742215.1:n.1101C=
XR_001742216.1:n.1120C=
XR_427718.1:n.1120C=
XR_427718.2:n.1120C=
XR_948290.1:n.1101C=
XR_948290.2:n.1101C=
XR_948291.1:n.1114C=
XR_948291.2:n.1114C=