Canonical Allele Identifier: CA1583150211
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390862C= , CM000667.2:g.132390862C= GRCh38
NC_000005.9:g.131726554C= , CM000667.1:g.131726554C= GRCh37
NC_000005.8:g.131754453C= NCBI36
NG_008982.1:g.26154C=
NG_008982.2:g.26159C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1066C= ENSP00000388838.2:p.Leu356=
ENST00000435065.7:c.1297C= ENSP00000402760.2:p.Leu433=
ENST00000448810.6:c.*77C= ENSP00000401860.2:n.*77C=
ENST00000685543.1:n.1366C=
ENST00000686757.1:c.*389C= ENSP00000510721.1:n.*389C=
ENST00000687740.1:n.3910C=
ENST00000688151.1:n.2535C=
ENST00000689271.1:c.1072C= ENSP00000510797.1:p.Leu358=
ENST00000690900.1:c.*389C= ENSP00000510703.1:n.*389C=
ENST00000692212.1:n.2837C=
ENST00000692355.1:c.478C=
ENST00000692413.1:c.1207C= ENSP00000509374.1:p.Leu403=
ENST00000692825.1:c.1293C= ENSP00000509447.1:n.1293C=
ENST00000693308.1:c.1273C= ENSP00000509770.1:p.Leu425=
ENST00000693763.1:n.2385C=
ENST00000245407.8:c.1225C= MANE Select ENSP00000245407.3:p.Leu409=
ENST00000245407.7:c.1225C= ENSP00000245407.3:p.Leu409=
ENST00000435065.6:c.1297C= ENSP00000402760.2:p.Leu433=
ENST00000447841.5:c.112-1571C=
ENST00000448810.5:c.487C=
ENST00000461013.5:n.8647C=
ENST00000475308.1:n.1903C=
ENST00000479605.5:n.328C=
NM_001308122.1:c.1297C= NP_001295051.1:p.Leu433=
NM_003060.3:c.1225C= NP_003051.1:p.Leu409=
XM_011543590.1:c.607C= XP_011541892.1:p.Leu203=
XR_427718.1:n.1585C=
XR_948290.1:n.1394-1571C=
XR_948291.1:n.1579C=
XM_011543590.2:c.607C= XP_011541892.1:p.Leu203=
XM_017009778.2:c.697C= XP_016865267.1:p.Leu233=
XR_001742215.1:n.1480C=
XR_001742216.1:n.1499C=
XR_427718.2:n.1585C=
XR_948290.2:n.1394-1571C=
XR_948291.2:n.1579C=
NM_003060.4:c.1225C= MANE Select NP_003051.1:p.Leu409=
NM_001308122.2:c.1297C= NP_001295051.1:p.Leu433=