Canonical Allele Identifier: CA360809730
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393709T>G , CM000667.2:g.132393709T>G GRCh38
NC_000005.9:g.131729401T>G , CM000667.1:g.131729401T>G GRCh37
NC_000005.8:g.131757300T>G NCBI36
NG_008982.1:g.29001T>G
NG_008982.2:g.29006T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1292-476T>G ENSP00000388838.2:n.1292-476T>G
ENST00000435065.7:c.1556T>G ENSP00000402760.2:p.Met519Arg
ENST00000448810.6:c.*336T>G ENSP00000401860.2:n.*336T>G
ENST00000685543.1:n.1625T>G
ENST00000686757.1:c.*648T>G ENSP00000510721.1:n.*648T>G
ENST00000686868.1:n.476T>G
ENST00000687740.1:n.4169T>G
ENST00000688151.1:n.2794T>G
ENST00000689271.1:c.1331T>G ENSP00000510797.1:p.Met444Arg
ENST00000690900.1:c.*648T>G ENSP00000510703.1:n.*648T>G
ENST00000692212.1:n.4624T>G
ENST00000692355.1:c.737T>G
ENST00000692413.1:c.1466T>G ENSP00000509374.1:p.Met489Arg
ENST00000692825.1:c.1552T>G ENSP00000509447.1:n.1552T>G
ENST00000693308.1:c.1532T>G ENSP00000509770.1:p.Met511Arg
ENST00000693763.1:n.2644T>G
ENST00000245407.8:c.1484T>G MANE Select ENSP00000245407.3:p.Met495Arg
ENST00000245407.7:c.1484T>G ENSP00000245407.3:p.Met495Arg
ENST00000435065.6:c.1556T>G ENSP00000402760.2:p.Met519Arg
ENST00000447841.5:c.328T>G
ENST00000448810.5:c.746T>G
ENST00000461013.5:n.8906T>G
ENST00000475308.1:n.2162T>G
NM_001308122.1:c.1556T>G NP_001295051.1:p.Met519Arg
NM_003060.3:c.1484T>G NP_003051.1:p.Met495Arg
XM_011543590.1:c.866T>G XP_011541892.1:p.Met289Arg
XR_948290.1:n.1610T>G
XM_011543590.2:c.866T>G XP_011541892.1:p.Met289Arg
XM_017009778.2:c.956T>G XP_016865267.1:p.Met319Arg
XR_001742215.1:n.1739T>G
XR_001742216.1:n.1758T>G
XR_427718.2:n.1844T>G
XR_948290.2:n.1610T>G
XR_948291.2:n.1838T>G
NM_003060.4:c.1484T>G MANE Select NP_003051.1:p.Met495Arg
NM_001308122.2:c.1556T>G NP_001295051.1:p.Met519Arg