Canonical Allele Identifier: CA127211536

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132388945C>T , CM000667.2:g.132388945C>T	GRCh38
NC_000005.9:g.131724637C>T , CM000667.1:g.131724637C>T	GRCh37
NC_000005.8:g.131752536C>T	NCBI36
NG_008982.1:g.24237C>T
NG_008982.2:g.24242C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.976C>T MANE Select	NP_003051.1:p.Gln326Ter
ENST00000245407.8:c.976C>T MANE Select	ENSP00000245407.3:p.Gln326Ter
NM_001308122.1:c.1048C>T	NP_001295051.1:p.Gln350Ter
NM_001308122.2:c.1048C>T	NP_001295051.1:p.Gln350Ter
NM_003060.3:c.976C>T	NP_003051.1:p.Gln326Ter
ENST00000245407.7:c.976C>T	ENSP00000245407.3:p.Gln326Ter
ENST00000415928.6:c.817C>T	ENSP00000388838.2:p.Gln273Ter
ENST00000435065.6:c.1048C>T	ENSP00000402760.2:p.Gln350Ter
ENST00000435065.7:c.1048C>T	ENSP00000402760.2:p.Gln350Ter
ENST00000437841.6:c.*291C>T	ENSP00000400553.1:n.*291C>T
ENST00000447841.5:c.35C>T
ENST00000448810.5:c.324C>T
ENST00000448810.6:c.976C>T	ENSP00000401860.2:p.Gln326Ter
ENST00000461013.5:n.8398C>T
ENST00000479605.5:n.79C>T
ENST00000685543.1:n.1117C>T
ENST00000686757.1:c.*140C>T	ENSP00000510721.1:n.*140C>T
ENST00000687740.1:n.3661C>T
ENST00000688151.1:n.2286C>T
ENST00000689271.1:c.823C>T	ENSP00000510797.1:p.Gln275Ter
ENST00000690900.1:c.*140C>T	ENSP00000510703.1:n.*140C>T
ENST00000692212.1:n.920C>T
ENST00000692355.1:c.229C>T
ENST00000692413.1:c.958C>T	ENSP00000509374.1:p.Gln320Ter
ENST00000692825.1:c.1044C>T	ENSP00000509447.1:n.1044C>T
ENST00000693308.1:c.1024C>T	ENSP00000509770.1:p.Gln342Ter
ENST00000693763.1:n.2136C>T
XM_011543590.1:c.358C>T	XP_011541892.1:p.Gln120Ter
XM_011543590.2:c.358C>T	XP_011541892.1:p.Gln120Ter
XM_017009778.2:c.448C>T	XP_016865267.1:p.Gln150Ter
XR_001742215.1:n.1317C>T
XR_001742216.1:n.1336C>T
XR_427718.1:n.1336C>T
XR_427718.2:n.1336C>T
XR_948290.1:n.1317C>T
XR_948290.2:n.1317C>T
XR_948291.1:n.1330C>T
XR_948291.2:n.1330C>T