Canonical Allele Identifier: CA1583144527
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393742C= , CM000667.2:g.132393742C= GRCh38
NC_000005.9:g.131729434C= , CM000667.1:g.131729434C= GRCh37
NC_000005.8:g.131757333C= NCBI36
NG_008982.1:g.29034C=
NG_008982.2:g.29039C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-443C= ENSP00000388838.2:n.1292-443C=
ENST00000435065.7:c.1589C= ENSP00000402760.2:p.Thr530=
ENST00000448810.6:c.*369C= ENSP00000401860.2:n.*369C=
ENST00000685543.1:n.1658C=
ENST00000686757.1:c.*681C= ENSP00000510721.1:n.*681C=
ENST00000686868.1:n.509C=
ENST00000687740.1:n.4202C=
ENST00000688151.1:n.2827C=
ENST00000689271.1:c.1364C= ENSP00000510797.1:p.Thr455=
ENST00000690900.1:c.*681C= ENSP00000510703.1:n.*681C=
ENST00000692212.1:n.4657C=
ENST00000692355.1:c.770C=
ENST00000692413.1:c.1499C= ENSP00000509374.1:p.Thr500=
ENST00000692825.1:c.1585C= ENSP00000509447.1:n.1585C=
ENST00000693308.1:c.1565C= ENSP00000509770.1:p.Thr522=
ENST00000693763.1:n.2677C=
ENST00000245407.8:c.1517C= MANE Select ENSP00000245407.3:p.Thr506=
ENST00000245407.7:c.1517C= ENSP00000245407.3:p.Thr506=
ENST00000435065.6:c.1589C= ENSP00000402760.2:p.Thr530=
ENST00000447841.5:c.361C=
ENST00000448810.5:c.779C=
ENST00000461013.5:n.8939C=
ENST00000475308.1:n.2195C=
NM_001308122.1:c.1589C= NP_001295051.1:p.Thr530=
NM_003060.3:c.1517C= NP_003051.1:p.Thr506=
XM_011543590.1:c.899C= XP_011541892.1:p.Thr300=
XR_948290.1:n.1643C=
XM_011543590.2:c.899C= XP_011541892.1:p.Thr300=
XM_017009778.2:c.989C= XP_016865267.1:p.Thr330=
XR_001742215.1:n.1772C=
XR_001742216.1:n.1791C=
XR_427718.2:n.1877C=
XR_948290.2:n.1643C=
XR_948291.2:n.1871C=
NM_003060.4:c.1517C= MANE Select NP_003051.1:p.Thr506=
NM_001308122.2:c.1589C= NP_001295051.1:p.Thr530=