Canonical Allele Identifier: CA1583144510
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393734C= , CM000667.2:g.132393734C= GRCh38
NC_000005.9:g.131729426C= , CM000667.1:g.131729426C= GRCh37
NC_000005.8:g.131757325C= NCBI36
NG_008982.1:g.29026C=
NG_008982.2:g.29031C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-451C= ENSP00000388838.2:n.1292-451C=
ENST00000435065.7:c.1581C= ENSP00000402760.2:p.Ala527=
ENST00000448810.6:c.*361C= ENSP00000401860.2:n.*361C=
ENST00000685543.1:n.1650C=
ENST00000686757.1:c.*673C= ENSP00000510721.1:n.*673C=
ENST00000686868.1:n.501C=
ENST00000687740.1:n.4194C=
ENST00000688151.1:n.2819C=
ENST00000689271.1:c.1356C= ENSP00000510797.1:p.Ala452=
ENST00000690900.1:c.*673C= ENSP00000510703.1:n.*673C=
ENST00000692212.1:n.4649C=
ENST00000692355.1:c.762C=
ENST00000692413.1:c.1491C= ENSP00000509374.1:p.Ala497=
ENST00000692825.1:c.1577C= ENSP00000509447.1:n.1577C=
ENST00000693308.1:c.1557C= ENSP00000509770.1:p.Ala519=
ENST00000693763.1:n.2669C=
ENST00000245407.8:c.1509C= MANE Select ENSP00000245407.3:p.Ala503=
ENST00000245407.7:c.1509C= ENSP00000245407.3:p.Ala503=
ENST00000435065.6:c.1581C= ENSP00000402760.2:p.Ala527=
ENST00000447841.5:c.353C=
ENST00000448810.5:c.771C=
ENST00000461013.5:n.8931C=
ENST00000475308.1:n.2187C=
NM_001308122.1:c.1581C= NP_001295051.1:p.Ala527=
NM_003060.3:c.1509C= NP_003051.1:p.Ala503=
XM_011543590.1:c.891C= XP_011541892.1:p.Ala297=
XR_948290.1:n.1635C=
XM_011543590.2:c.891C= XP_011541892.1:p.Ala297=
XM_017009778.2:c.981C= XP_016865267.1:p.Ala327=
XR_001742215.1:n.1764C=
XR_001742216.1:n.1783C=
XR_427718.2:n.1869C=
XR_948290.2:n.1635C=
XR_948291.2:n.1863C=
NM_003060.4:c.1509C= MANE Select NP_003051.1:p.Ala503=
NM_001308122.2:c.1581C= NP_001295051.1:p.Ala527=