Canonical Allele Identifier: CA360809743
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393714A>T , CM000667.2:g.132393714A>T GRCh38
NC_000005.9:g.131729406A>T , CM000667.1:g.131729406A>T GRCh37
NC_000005.8:g.131757305A>T NCBI36
NG_008982.1:g.29006A>T
NG_008982.2:g.29011A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-471A>T ENSP00000388838.2:n.1292-471A>T
ENST00000435065.7:c.1561A>T ENSP00000402760.2:p.Ser521Cys
ENST00000448810.6:c.*341A>T ENSP00000401860.2:n.*341A>T
ENST00000685543.1:n.1630A>T
ENST00000686757.1:c.*653A>T ENSP00000510721.1:n.*653A>T
ENST00000686868.1:n.481A>T
ENST00000687740.1:n.4174A>T
ENST00000688151.1:n.2799A>T
ENST00000689271.1:c.1336A>T ENSP00000510797.1:p.Ser446Cys
ENST00000690900.1:c.*653A>T ENSP00000510703.1:n.*653A>T
ENST00000692212.1:n.4629A>T
ENST00000692355.1:c.742A>T
ENST00000692413.1:c.1471A>T ENSP00000509374.1:p.Ser491Cys
ENST00000692825.1:c.1557A>T ENSP00000509447.1:n.1557A>T
ENST00000693308.1:c.1537A>T ENSP00000509770.1:p.Ser513Cys
ENST00000693763.1:n.2649A>T
ENST00000245407.8:c.1489A>T MANE Select ENSP00000245407.3:p.Ser497Cys
ENST00000245407.7:c.1489A>T ENSP00000245407.3:p.Ser497Cys
ENST00000435065.6:c.1561A>T ENSP00000402760.2:p.Ser521Cys
ENST00000447841.5:c.333A>T
ENST00000448810.5:c.751A>T
ENST00000461013.5:n.8911A>T
ENST00000475308.1:n.2167A>T
NM_001308122.1:c.1561A>T NP_001295051.1:p.Ser521Cys
NM_003060.3:c.1489A>T NP_003051.1:p.Ser497Cys
XM_011543590.1:c.871A>T XP_011541892.1:p.Ser291Cys
XR_948290.1:n.1615A>T
XM_011543590.2:c.871A>T XP_011541892.1:p.Ser291Cys
XM_017009778.2:c.961A>T XP_016865267.1:p.Ser321Cys
XR_001742215.1:n.1744A>T
XR_001742216.1:n.1763A>T
XR_427718.2:n.1849A>T
XR_948290.2:n.1615A>T
XR_948291.2:n.1843A>T
NM_003060.4:c.1489A>T MANE Select NP_003051.1:p.Ser497Cys
NM_001308122.2:c.1561A>T NP_001295051.1:p.Ser521Cys