Canonical Allele Identifier: CA360809957
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393778C>G , CM000667.2:g.132393778C>G GRCh38
NC_000005.9:g.131729470C>G , CM000667.1:g.131729470C>G GRCh37
NC_000005.8:g.131757369C>G NCBI36
NG_008982.1:g.29070C>G
NG_008982.2:g.29075C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-407C>G ENSP00000388838.2:n.1292-407C>G
ENST00000435065.7:c.1625C>G ENSP00000402760.2:p.Pro542Arg
ENST00000448810.6:c.*405C>G ENSP00000401860.2:n.*405C>G
ENST00000685543.1:n.1694C>G
ENST00000686757.1:c.*717C>G ENSP00000510721.1:n.*717C>G
ENST00000686868.1:n.545C>G
ENST00000687740.1:n.4238C>G
ENST00000688151.1:n.2863C>G
ENST00000689271.1:c.1400C>G ENSP00000510797.1:p.Pro467Arg
ENST00000690900.1:c.*717C>G ENSP00000510703.1:n.*717C>G
ENST00000692212.1:n.4693C>G
ENST00000692355.1:c.806C>G
ENST00000692413.1:c.1535C>G ENSP00000509374.1:p.Pro512Arg
ENST00000692825.1:c.1621C>G ENSP00000509447.1:n.1621C>G
ENST00000693308.1:c.1601C>G ENSP00000509770.1:p.Pro534Arg
ENST00000693763.1:n.2713C>G
ENST00000245407.8:c.1553C>G MANE Select ENSP00000245407.3:p.Pro518Arg
ENST00000245407.7:c.1553C>G ENSP00000245407.3:p.Pro518Arg
ENST00000435065.6:c.1625C>G ENSP00000402760.2:p.Pro542Arg
ENST00000447841.5:c.397C>G
ENST00000448810.5:c.815C>G
ENST00000461013.5:n.8975C>G
ENST00000475308.1:n.2231C>G
NM_001308122.1:c.1625C>G NP_001295051.1:p.Pro542Arg
NM_003060.3:c.1553C>G NP_003051.1:p.Pro518Arg
XM_011543590.1:c.935C>G XP_011541892.1:p.Pro312Arg
XR_948290.1:n.1679C>G
XM_011543590.2:c.935C>G XP_011541892.1:p.Pro312Arg
XM_017009778.2:c.1025C>G XP_016865267.1:p.Pro342Arg
XR_001742215.1:n.1808C>G
XR_001742216.1:n.1827C>G
XR_427718.2:n.1913C>G
XR_948290.2:n.1679C>G
XR_948291.2:n.1907C>G
NM_003060.4:c.1553C>G MANE Select NP_003051.1:p.Pro518Arg
NM_001308122.2:c.1625C>G NP_001295051.1:p.Pro542Arg