Canonical Allele Identifier: CA1583150279
Gene: SLC22A5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390888G= , CM000667.2:g.132390888G= GRCh38
NC_000005.9:g.131726580G= , CM000667.1:g.131726580G= GRCh37
NC_000005.8:g.131754479G= NCBI36
NG_008982.1:g.26180G=
NG_008982.2:g.26185G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1092G= ENSP00000388838.2:p.Met364=
ENST00000435065.7:c.1323G= ENSP00000402760.2:p.Met441=
ENST00000448810.6:c.*103G= ENSP00000401860.2:n.*103G=
ENST00000685543.1:n.1392G=
ENST00000686757.1:c.*415G= ENSP00000510721.1:n.*415G=
ENST00000687740.1:n.3936G=
ENST00000688151.1:n.2561G=
ENST00000689271.1:c.1098G= ENSP00000510797.1:p.Met366=
ENST00000690900.1:c.*415G= ENSP00000510703.1:n.*415G=
ENST00000692212.1:n.2863G=
ENST00000692355.1:c.504G=
ENST00000692413.1:c.1233G= ENSP00000509374.1:p.Met411=
ENST00000692825.1:c.1319G= ENSP00000509447.1:n.1319G=
ENST00000693308.1:c.1299G= ENSP00000509770.1:p.Met433=
ENST00000693763.1:n.2411G=
ENST00000245407.8:c.1251G= MANE Select ENSP00000245407.3:p.Met417=
ENST00000245407.7:c.1251G= ENSP00000245407.3:p.Met417=
ENST00000435065.6:c.1323G= ENSP00000402760.2:p.Met441=
ENST00000447841.5:c.112-1545G=
ENST00000448810.5:c.513G=
ENST00000461013.5:n.8673G=
ENST00000475308.1:n.1929G=
ENST00000479605.5:n.354G=
NM_001308122.1:c.1323G= NP_001295051.1:p.Met441=
NM_003060.3:c.1251G= NP_003051.1:p.Met417=
XM_011543590.1:c.633G= XP_011541892.1:p.Met211=
XR_427718.1:n.1611G=
XR_948290.1:n.1394-1545G=
XR_948291.1:n.1605G=
XM_011543590.2:c.633G= XP_011541892.1:p.Met211=
XM_017009778.2:c.723G= XP_016865267.1:p.Met241=
XR_001742215.1:n.1506G=
XR_001742216.1:n.1525G=
XR_427718.2:n.1611G=
XR_948290.2:n.1394-1545G=
XR_948291.2:n.1605G=
NM_003060.4:c.1251G= MANE Select NP_003051.1:p.Met417=
NM_001308122.2:c.1323G= NP_001295051.1:p.Met441=