Canonical Allele Identifier: CA16042574
Gene: SLC22A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 373229
dbSNP Id: rs1057518297

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132390889C>T , CM000667.2:g.132390889C>T GRCh38
NC_000005.9:g.131726581C>T , CM000667.1:g.131726581C>T GRCh37
NC_000005.8:g.131754480C>T NCBI36
NG_008982.1:g.26181C>T
NG_008982.2:g.26186C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.1093C>T ENSP00000388838.2:p.Gln365Ter
ENST00000435065.7:c.1324C>T ENSP00000402760.2:p.Gln442Ter
ENST00000448810.6:c.*104C>T ENSP00000401860.2:n.*104C>T
ENST00000685543.1:n.1393C>T
ENST00000686757.1:c.*416C>T ENSP00000510721.1:n.*416C>T
ENST00000687740.1:n.3937C>T
ENST00000688151.1:n.2562C>T
ENST00000689271.1:c.1099C>T ENSP00000510797.1:p.Gln367Ter
ENST00000690900.1:c.*416C>T ENSP00000510703.1:n.*416C>T
ENST00000692212.1:n.2864C>T
ENST00000692355.1:c.505C>T
ENST00000692413.1:c.1234C>T ENSP00000509374.1:p.Gln412Ter
ENST00000692825.1:c.1320C>T ENSP00000509447.1:n.1320C>T
ENST00000693308.1:c.1300C>T ENSP00000509770.1:p.Gln434Ter
ENST00000693763.1:n.2412C>T
ENST00000245407.8:c.1252C>T MANE Select ENSP00000245407.3:p.Gln418Ter
ENST00000245407.7:c.1252C>T ENSP00000245407.3:p.Gln418Ter
ENST00000435065.6:c.1324C>T ENSP00000402760.2:p.Gln442Ter
ENST00000447841.5:c.112-1544C>T
ENST00000448810.5:c.514C>T
ENST00000461013.5:n.8674C>T
ENST00000475308.1:n.1930C>T
ENST00000479605.5:n.355C>T
NM_001308122.1:c.1324C>T NP_001295051.1:p.Gln442Ter
NM_003060.3:c.1252C>T NP_003051.1:p.Gln418Ter
XM_011543590.1:c.634C>T XP_011541892.1:p.Gln212Ter
XR_427718.1:n.1612C>T
XR_948290.1:n.1394-1544C>T
XR_948291.1:n.1606C>T
XM_011543590.2:c.634C>T XP_011541892.1:p.Gln212Ter
XM_017009778.2:c.724C>T XP_016865267.1:p.Gln242Ter
XR_001742215.1:n.1507C>T
XR_001742216.1:n.1526C>T
XR_427718.2:n.1612C>T
XR_948290.2:n.1394-1544C>T
XR_948291.2:n.1606C>T
NM_003060.4:c.1252C>T MANE Select NP_003051.1:p.Gln418Ter
NM_001308122.2:c.1324C>T NP_001295051.1:p.Gln442Ter