Canonical Allele Identifier: CA1583141228
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132378186C= , CM000667.2:g.132378186C= GRCh38
NC_000005.9:g.131713878C= , CM000667.1:g.131713878C= GRCh37
NC_000005.8:g.131741777C= NCBI36
NG_008982.1:g.13478C=
NG_008982.2:g.13483C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.394-192C= ENSP00000388838.2:n.394-192C=
ENST00000435065.7:c.416C= ENSP00000402760.2:p.Ala139=
ENST00000448810.6:c.394-192C= ENSP00000401860.2:n.394-192C=
ENST00000686757.1:c.394-192C= ENSP00000510721.1:n.394-192C=
ENST00000687740.1:n.528-192C=
ENST00000689271.1:c.394-192C= ENSP00000510797.1:n.394-192C=
ENST00000690900.1:c.394-192C= ENSP00000510703.1:n.394-192C=
ENST00000692413.1:c.394-192C= ENSP00000509374.1:n.394-192C=
ENST00000692825.1:c.412C= ENSP00000509447.1:p.Leu138=
ENST00000693308.1:c.394-192C= ENSP00000509770.1:n.394-192C=
ENST00000693763.1:n.528-192C=
ENST00000245407.8:c.394-192C= MANE Select ENSP00000245407.3:n.394-192C=
ENST00000245407.7:c.394-192C= ENSP00000245407.3:n.394-192C=
ENST00000415928.5:c.113C= ENSP00000388838.1:p.Ala38=
ENST00000435065.6:c.416C= ENSP00000402760.2:p.Ala139=
ENST00000437841.6:c.394-7142C= ENSP00000400553.1:n.394-7142C=
ENST00000461013.5:n.2101C=
NM_001308122.1:c.416C= NP_001295051.1:p.Ala139=
NM_003060.3:c.394-192C= NP_003051.1:n.394-192C=
XR_427718.1:n.685C=
XR_948290.1:n.685C=
XR_948291.1:n.685C=
XM_011543590.2:c.-238-192C= XP_011541892.1:n.-238-192C=
XM_017009778.2:c.-31-5961C= XP_016865267.1:n.-31-5961C=
XR_001742215.1:n.685C=
XR_001742216.1:n.685C=
XR_427718.2:n.685C=
XR_948290.2:n.685C=
XR_948291.2:n.685C=
NM_003060.4:c.394-192C= MANE Select NP_003051.1:n.394-192C=
NM_001308122.2:c.416C= NP_001295051.1:p.Ala139=