Canonical Allele Identifier: CA360809610
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393688G>T , CM000667.2:g.132393688G>T GRCh38
NC_000005.9:g.131729380G>T , CM000667.1:g.131729380G>T GRCh37
NC_000005.8:g.131757279G>T NCBI36
NG_008982.1:g.28980G>T
NG_008982.2:g.28985G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-497G>T ENSP00000388838.2:n.1292-497G>T
ENST00000435065.7:c.1535G>T ENSP00000402760.2:p.Arg512Leu
ENST00000448810.6:c.*315G>T ENSP00000401860.2:n.*315G>T
ENST00000685543.1:n.1604G>T
ENST00000686757.1:c.*627G>T ENSP00000510721.1:n.*627G>T
ENST00000686868.1:n.455G>T
ENST00000687740.1:n.4148G>T
ENST00000688151.1:n.2773G>T
ENST00000689271.1:c.1310G>T ENSP00000510797.1:p.Arg437Leu
ENST00000690900.1:c.*627G>T ENSP00000510703.1:n.*627G>T
ENST00000692212.1:n.4603G>T
ENST00000692355.1:c.716G>T
ENST00000692413.1:c.1445G>T ENSP00000509374.1:p.Arg482Leu
ENST00000692825.1:c.1531G>T ENSP00000509447.1:n.1531G>T
ENST00000693308.1:c.1511G>T ENSP00000509770.1:p.Arg504Leu
ENST00000693763.1:n.2623G>T
ENST00000245407.8:c.1463G>T MANE Select ENSP00000245407.3:p.Arg488Leu
ENST00000245407.7:c.1463G>T ENSP00000245407.3:p.Arg488Leu
ENST00000435065.6:c.1535G>T ENSP00000402760.2:p.Arg512Leu
ENST00000447841.5:c.307G>T
ENST00000448810.5:c.725G>T
ENST00000461013.5:n.8885G>T
ENST00000475308.1:n.2141G>T
NM_001308122.1:c.1535G>T NP_001295051.1:p.Arg512Leu
NM_003060.3:c.1463G>T NP_003051.1:p.Arg488Leu
XM_011543590.1:c.845G>T XP_011541892.1:p.Arg282Leu
XR_948290.1:n.1589G>T
XM_011543590.2:c.845G>T XP_011541892.1:p.Arg282Leu
XM_017009778.2:c.935G>T XP_016865267.1:p.Arg312Leu
XR_001742215.1:n.1718G>T
XR_001742216.1:n.1737G>T
XR_427718.2:n.1823G>T
XR_948290.2:n.1589G>T
XR_948291.2:n.1817G>T
NM_003060.4:c.1463G>T MANE Select NP_003051.1:p.Arg488Leu
NM_001308122.2:c.1535G>T NP_001295051.1:p.Arg512Leu