Canonical Allele Identifier: CA1583144761
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385469T= , CM000667.2:g.132385469T= GRCh38
NC_000005.9:g.131721161T= , CM000667.1:g.131721161T= GRCh37
NC_000005.8:g.131749060T= NCBI36
NG_008982.1:g.20761T=
NG_008982.2:g.20766T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1155T= ENSP00000388838.2:n.665+1155T=
ENST00000435065.7:c.866T= ENSP00000402760.2:p.Met289=
ENST00000448810.6:c.794T= ENSP00000401860.2:p.Met265=
ENST00000686757.1:c.813T= ENSP00000510721.1:p.Asp271=
ENST00000687740.1:n.1954T=
ENST00000688151.1:n.1986T=
ENST00000689271.1:c.671+1149T= ENSP00000510797.1:n.671+1149T=
ENST00000690900.1:c.765T= ENSP00000510703.1:p.Asp255=
ENST00000692212.1:n.620T=
ENST00000692355.1:c.204+1168T=
ENST00000692413.1:c.813T= ENSP00000509374.1:p.Asp271=
ENST00000692825.1:c.862T= ENSP00000509447.1:n.862T=
ENST00000693308.1:c.807T= ENSP00000509770.1:p.Asp269=
ENST00000693763.1:n.1954T=
ENST00000245407.8:c.794T= MANE Select ENSP00000245407.3:p.Met265=
ENST00000245407.7:c.794T= ENSP00000245407.3:p.Met265=
ENST00000415928.5:c.563T= ENSP00000388838.1:p.Met188=
ENST00000435065.6:c.866T= ENSP00000402760.2:p.Met289=
ENST00000437841.6:c.*109T= ENSP00000400553.1:n.*109T=
ENST00000448810.5:c.142T=
ENST00000461013.5:n.8216T=
NM_001308122.1:c.866T= NP_001295051.1:p.Met289=
NM_003060.3:c.794T= NP_003051.1:p.Met265=
XM_011543590.1:c.176T= XP_011541892.1:p.Met59=
XR_427718.1:n.1154T=
XR_948290.1:n.1135T=
XR_948291.1:n.1148T=
XM_011543590.2:c.176T= XP_011541892.1:p.Met59=
XM_017009778.2:c.266T= XP_016865267.1:p.Met89=
XR_001742215.1:n.1135T=
XR_001742216.1:n.1154T=
XR_427718.2:n.1154T=
XR_948290.2:n.1135T=
XR_948291.2:n.1148T=
NM_003060.4:c.794T= MANE Select NP_003051.1:p.Met265=
NM_001308122.2:c.866T= NP_001295051.1:p.Met289=