Canonical Allele Identifier: CA360807813
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390878T>A , CM000667.2:g.132390878T>A GRCh38
NC_000005.9:g.131726570T>A , CM000667.1:g.131726570T>A GRCh37
NC_000005.8:g.131754469T>A NCBI36
NG_008982.1:g.26170T>A
NG_008982.2:g.26175T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1082T>A ENSP00000388838.2:p.Leu361His
ENST00000435065.7:c.1313T>A ENSP00000402760.2:p.Leu438His
ENST00000448810.6:c.*93T>A ENSP00000401860.2:n.*93T>A
ENST00000685543.1:n.1382T>A
ENST00000686757.1:c.*405T>A ENSP00000510721.1:n.*405T>A
ENST00000687740.1:n.3926T>A
ENST00000688151.1:n.2551T>A
ENST00000689271.1:c.1088T>A ENSP00000510797.1:p.Leu363His
ENST00000690900.1:c.*405T>A ENSP00000510703.1:n.*405T>A
ENST00000692212.1:n.2853T>A
ENST00000692355.1:c.494T>A
ENST00000692413.1:c.1223T>A ENSP00000509374.1:p.Leu408His
ENST00000692825.1:c.1309T>A ENSP00000509447.1:n.1309T>A
ENST00000693308.1:c.1289T>A ENSP00000509770.1:p.Leu430His
ENST00000693763.1:n.2401T>A
ENST00000245407.8:c.1241T>A MANE Select ENSP00000245407.3:p.Leu414His
ENST00000245407.7:c.1241T>A ENSP00000245407.3:p.Leu414His
ENST00000435065.6:c.1313T>A ENSP00000402760.2:p.Leu438His
ENST00000447841.5:c.112-1555T>A
ENST00000448810.5:c.503T>A
ENST00000461013.5:n.8663T>A
ENST00000475308.1:n.1919T>A
ENST00000479605.5:n.344T>A
NM_001308122.1:c.1313T>A NP_001295051.1:p.Leu438His
NM_003060.3:c.1241T>A NP_003051.1:p.Leu414His
XM_011543590.1:c.623T>A XP_011541892.1:p.Leu208His
XR_427718.1:n.1601T>A
XR_948290.1:n.1394-1555T>A
XR_948291.1:n.1595T>A
XM_011543590.2:c.623T>A XP_011541892.1:p.Leu208His
XM_017009778.2:c.713T>A XP_016865267.1:p.Leu238His
XR_001742215.1:n.1496T>A
XR_001742216.1:n.1515T>A
XR_427718.2:n.1601T>A
XR_948290.2:n.1394-1555T>A
XR_948291.2:n.1595T>A
NM_003060.4:c.1241T>A MANE Select NP_003051.1:p.Leu414His
NM_001308122.2:c.1313T>A NP_001295051.1:p.Leu438His