Canonical Allele Identifier: CA1583144571
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393777C= , CM000667.2:g.132393777C= GRCh38
NC_000005.9:g.131729469C= , CM000667.1:g.131729469C= GRCh37
NC_000005.8:g.131757368C= NCBI36
NG_008982.1:g.29069C=
NG_008982.2:g.29074C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-408C= ENSP00000388838.2:n.1292-408C=
ENST00000435065.7:c.1624C= ENSP00000402760.2:p.Pro542=
ENST00000448810.6:c.*404C= ENSP00000401860.2:n.*404C=
ENST00000685543.1:n.1693C=
ENST00000686757.1:c.*716C= ENSP00000510721.1:n.*716C=
ENST00000686868.1:n.544C=
ENST00000687740.1:n.4237C=
ENST00000688151.1:n.2862C=
ENST00000689271.1:c.1399C= ENSP00000510797.1:p.Pro467=
ENST00000690900.1:c.*716C= ENSP00000510703.1:n.*716C=
ENST00000692212.1:n.4692C=
ENST00000692355.1:c.805C=
ENST00000692413.1:c.1534C= ENSP00000509374.1:p.Pro512=
ENST00000692825.1:c.1620C= ENSP00000509447.1:n.1620C=
ENST00000693308.1:c.1600C= ENSP00000509770.1:p.Pro534=
ENST00000693763.1:n.2712C=
ENST00000245407.8:c.1552C= MANE Select ENSP00000245407.3:p.Pro518=
ENST00000245407.7:c.1552C= ENSP00000245407.3:p.Pro518=
ENST00000435065.6:c.1624C= ENSP00000402760.2:p.Pro542=
ENST00000447841.5:c.396C=
ENST00000448810.5:c.814C=
ENST00000461013.5:n.8974C=
ENST00000475308.1:n.2230C=
NM_001308122.1:c.1624C= NP_001295051.1:p.Pro542=
NM_003060.3:c.1552C= NP_003051.1:p.Pro518=
XM_011543590.1:c.934C= XP_011541892.1:p.Pro312=
XR_948290.1:n.1678C=
XM_011543590.2:c.934C= XP_011541892.1:p.Pro312=
XM_017009778.2:c.1024C= XP_016865267.1:p.Pro342=
XR_001742215.1:n.1807C=
XR_001742216.1:n.1826C=
XR_427718.2:n.1912C=
XR_948290.2:n.1678C=
XR_948291.2:n.1906C=
NM_003060.4:c.1552C= MANE Select NP_003051.1:p.Pro518=
NM_001308122.2:c.1624C= NP_001295051.1:p.Pro542=