Canonical Allele Identifier: CA360809824
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393739T>G , CM000667.2:g.132393739T>G GRCh38
NC_000005.9:g.131729431T>G , CM000667.1:g.131729431T>G GRCh37
NC_000005.8:g.131757330T>G NCBI36
NG_008982.1:g.29031T>G
NG_008982.2:g.29036T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-446T>G ENSP00000388838.2:n.1292-446T>G
ENST00000435065.7:c.1586T>G ENSP00000402760.2:p.Leu529Arg
ENST00000448810.6:c.*366T>G ENSP00000401860.2:n.*366T>G
ENST00000685543.1:n.1655T>G
ENST00000686757.1:c.*678T>G ENSP00000510721.1:n.*678T>G
ENST00000686868.1:n.506T>G
ENST00000687740.1:n.4199T>G
ENST00000688151.1:n.2824T>G
ENST00000689271.1:c.1361T>G ENSP00000510797.1:p.Leu454Arg
ENST00000690900.1:c.*678T>G ENSP00000510703.1:n.*678T>G
ENST00000692212.1:n.4654T>G
ENST00000692355.1:c.767T>G
ENST00000692413.1:c.1496T>G ENSP00000509374.1:p.Leu499Arg
ENST00000692825.1:c.1582T>G ENSP00000509447.1:n.1582T>G
ENST00000693308.1:c.1562T>G ENSP00000509770.1:p.Leu521Arg
ENST00000693763.1:n.2674T>G
ENST00000245407.8:c.1514T>G MANE Select ENSP00000245407.3:p.Leu505Arg
ENST00000245407.7:c.1514T>G ENSP00000245407.3:p.Leu505Arg
ENST00000435065.6:c.1586T>G ENSP00000402760.2:p.Leu529Arg
ENST00000447841.5:c.358T>G
ENST00000448810.5:c.776T>G
ENST00000461013.5:n.8936T>G
ENST00000475308.1:n.2192T>G
NM_001308122.1:c.1586T>G NP_001295051.1:p.Leu529Arg
NM_003060.3:c.1514T>G NP_003051.1:p.Leu505Arg
XM_011543590.1:c.896T>G XP_011541892.1:p.Leu299Arg
XR_948290.1:n.1640T>G
XM_011543590.2:c.896T>G XP_011541892.1:p.Leu299Arg
XM_017009778.2:c.986T>G XP_016865267.1:p.Leu329Arg
XR_001742215.1:n.1769T>G
XR_001742216.1:n.1788T>G
XR_427718.2:n.1874T>G
XR_948290.2:n.1640T>G
XR_948291.2:n.1868T>G
NM_003060.4:c.1514T>G MANE Select NP_003051.1:p.Leu505Arg
NM_001308122.2:c.1586T>G NP_001295051.1:p.Leu529Arg