Canonical Allele Identifier: CA360807475
Gene: SLC22A5 HGNC NCBI

Linked Data

dbSNP Id: rs1412938894

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390718C>A , CM000667.2:g.132390718C>A GRCh38
NC_000005.9:g.131726410C>A , CM000667.1:g.131726410C>A GRCh37
NC_000005.8:g.131754309C>A NCBI36
NG_008982.1:g.26010C>A
NG_008982.2:g.26015C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.922C>A ENSP00000388838.2:p.Leu308Ile
ENST00000435065.7:c.1153C>A ENSP00000402760.2:p.Leu385Ile
ENST00000448810.6:c.1053-58C>A ENSP00000401860.2:n.1053-58C>A
ENST00000685543.1:n.1222C>A
ENST00000686757.1:c.*245C>A ENSP00000510721.1:n.*245C>A
ENST00000687740.1:n.3766C>A
ENST00000688151.1:n.2391C>A
ENST00000689271.1:c.928C>A ENSP00000510797.1:p.Leu310Ile
ENST00000690900.1:c.*245C>A ENSP00000510703.1:n.*245C>A
ENST00000692212.1:n.2693C>A
ENST00000692355.1:c.334C>A
ENST00000692413.1:c.1063C>A ENSP00000509374.1:p.Leu355Ile
ENST00000692825.1:c.1149C>A ENSP00000509447.1:n.1149C>A
ENST00000693308.1:c.1129C>A ENSP00000509770.1:p.Leu377Ile
ENST00000693763.1:n.2241C>A
ENST00000245407.8:c.1081C>A MANE Select ENSP00000245407.3:p.Leu361Ile
ENST00000245407.7:c.1081C>A ENSP00000245407.3:p.Leu361Ile
ENST00000435065.6:c.1153C>A ENSP00000402760.2:p.Leu385Ile
ENST00000447841.5:c.111+1697C>A
ENST00000448810.5:c.401-58C>A
ENST00000461013.5:n.8503C>A
ENST00000475308.1:n.1759C>A
ENST00000479605.5:n.184C>A
NM_001308122.1:c.1153C>A NP_001295051.1:p.Leu385Ile
NM_003060.3:c.1081C>A NP_003051.1:p.Leu361Ile
XM_011543590.1:c.463C>A XP_011541892.1:p.Leu155Ile
XR_427718.1:n.1441C>A
XR_948290.1:n.1393+1697C>A
XR_948291.1:n.1435C>A
XM_011543590.2:c.463C>A XP_011541892.1:p.Leu155Ile
XM_017009778.2:c.553C>A XP_016865267.1:p.Leu185Ile
XR_001742215.1:n.1394-58C>A
XR_001742216.1:n.1413-58C>A
XR_427718.2:n.1441C>A
XR_948290.2:n.1393+1697C>A
XR_948291.2:n.1435C>A
NM_003060.4:c.1081C>A MANE Select NP_003051.1:p.Leu361Ile
NM_001308122.2:c.1153C>A NP_001295051.1:p.Leu385Ile