Canonical Allele Identifier: CA360809895
Gene: SLC22A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132393761C>G , CM000667.2:g.132393761C>G GRCh38
NC_000005.9:g.131729453C>G , CM000667.1:g.131729453C>G GRCh37
NC_000005.8:g.131757352C>G NCBI36
NG_008982.1:g.29053C>G
NG_008982.2:g.29058C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.1292-424C>G ENSP00000388838.2:n.1292-424C>G
ENST00000435065.7:c.1608C>G ENSP00000402760.2:p.Ser536Arg
ENST00000448810.6:c.*388C>G ENSP00000401860.2:n.*388C>G
ENST00000685543.1:n.1677C>G
ENST00000686757.1:c.*700C>G ENSP00000510721.1:n.*700C>G
ENST00000686868.1:n.528C>G
ENST00000687740.1:n.4221C>G
ENST00000688151.1:n.2846C>G
ENST00000689271.1:c.1383C>G ENSP00000510797.1:p.Ser461Arg
ENST00000690900.1:c.*700C>G ENSP00000510703.1:n.*700C>G
ENST00000692212.1:n.4676C>G
ENST00000692355.1:c.789C>G
ENST00000692413.1:c.1518C>G ENSP00000509374.1:p.Ser506Arg
ENST00000692825.1:c.1604C>G ENSP00000509447.1:n.1604C>G
ENST00000693308.1:c.1584C>G ENSP00000509770.1:p.Ser528Arg
ENST00000693763.1:n.2696C>G
ENST00000245407.8:c.1536C>G MANE Select ENSP00000245407.3:p.Ser512Arg
ENST00000245407.7:c.1536C>G ENSP00000245407.3:p.Ser512Arg
ENST00000435065.6:c.1608C>G ENSP00000402760.2:p.Ser536Arg
ENST00000447841.5:c.380C>G
ENST00000448810.5:c.798C>G
ENST00000461013.5:n.8958C>G
ENST00000475308.1:n.2214C>G
NM_001308122.1:c.1608C>G NP_001295051.1:p.Ser536Arg
NM_003060.3:c.1536C>G NP_003051.1:p.Ser512Arg
XM_011543590.1:c.918C>G XP_011541892.1:p.Ser306Arg
XR_948290.1:n.1662C>G
XM_011543590.2:c.918C>G XP_011541892.1:p.Ser306Arg
XM_017009778.2:c.1008C>G XP_016865267.1:p.Ser336Arg
XR_001742215.1:n.1791C>G
XR_001742216.1:n.1810C>G
XR_427718.2:n.1896C>G
XR_948290.2:n.1662C>G
XR_948291.2:n.1890C>G
NM_003060.4:c.1536C>G MANE Select NP_003051.1:p.Ser512Arg
NM_001308122.2:c.1608C>G NP_001295051.1:p.Ser536Arg