Canonical Allele Identifier: CA360809873
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393754C>T , CM000667.2:g.132393754C>T GRCh38
NC_000005.9:g.131729446C>T , CM000667.1:g.131729446C>T GRCh37
NC_000005.8:g.131757345C>T NCBI36
NG_008982.1:g.29046C>T
NG_008982.2:g.29051C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-431C>T ENSP00000388838.2:n.1292-431C>T
ENST00000435065.7:c.1601C>T ENSP00000402760.2:p.Pro534Leu
ENST00000448810.6:c.*381C>T ENSP00000401860.2:n.*381C>T
ENST00000685543.1:n.1670C>T
ENST00000686757.1:c.*693C>T ENSP00000510721.1:n.*693C>T
ENST00000686868.1:n.521C>T
ENST00000687740.1:n.4214C>T
ENST00000688151.1:n.2839C>T
ENST00000689271.1:c.1376C>T ENSP00000510797.1:p.Pro459Leu
ENST00000690900.1:c.*693C>T ENSP00000510703.1:n.*693C>T
ENST00000692212.1:n.4669C>T
ENST00000692355.1:c.782C>T
ENST00000692413.1:c.1511C>T ENSP00000509374.1:p.Pro504Leu
ENST00000692825.1:c.1597C>T ENSP00000509447.1:n.1597C>T
ENST00000693308.1:c.1577C>T ENSP00000509770.1:p.Pro526Leu
ENST00000693763.1:n.2689C>T
ENST00000245407.8:c.1529C>T MANE Select ENSP00000245407.3:p.Pro510Leu
ENST00000245407.7:c.1529C>T ENSP00000245407.3:p.Pro510Leu
ENST00000435065.6:c.1601C>T ENSP00000402760.2:p.Pro534Leu
ENST00000447841.5:c.373C>T
ENST00000448810.5:c.791C>T
ENST00000461013.5:n.8951C>T
ENST00000475308.1:n.2207C>T
NM_001308122.1:c.1601C>T NP_001295051.1:p.Pro534Leu
NM_003060.3:c.1529C>T NP_003051.1:p.Pro510Leu
XM_011543590.1:c.911C>T XP_011541892.1:p.Pro304Leu
XR_948290.1:n.1655C>T
XM_011543590.2:c.911C>T XP_011541892.1:p.Pro304Leu
XM_017009778.2:c.1001C>T XP_016865267.1:p.Pro334Leu
XR_001742215.1:n.1784C>T
XR_001742216.1:n.1803C>T
XR_427718.2:n.1889C>T
XR_948290.2:n.1655C>T
XR_948291.2:n.1883C>T
NM_003060.4:c.1529C>T MANE Select NP_003051.1:p.Pro510Leu
NM_001308122.2:c.1601C>T NP_001295051.1:p.Pro534Leu