Canonical Allele Identifier: CA446332557
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131722732C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132387040C>G , CM000667.2:g.132387040C>G GRCh38
NC_000005.9:g.131722732C>G , CM000667.1:g.131722732C>G GRCh37
NC_000005.8:g.131750631C>G NCBI36
NG_008982.1:g.22332C>G
NG_008982.2:g.22337C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.681C>G ENSP00000388838.2:p.Ser227=
ENST00000435065.7:c.912C>G ENSP00000402760.2:p.Ser304=
ENST00000448810.6:c.840C>G ENSP00000401860.2:p.Ser280=
ENST00000686757.1:c.*4C>G ENSP00000510721.1:n.*4C>G
ENST00000687740.1:n.3525C>G
ENST00000688151.1:n.2150C>G
ENST00000689271.1:c.687C>G ENSP00000510797.1:p.Ser229=
ENST00000690900.1:c.*4C>G ENSP00000510703.1:n.*4C>G
ENST00000692212.1:n.784C>G
ENST00000692355.1:c.205-1881C>G
ENST00000692413.1:c.844-22C>G ENSP00000509374.1:n.844-22C>G
ENST00000692825.1:c.908C>G ENSP00000509447.1:n.908C>G
ENST00000693308.1:c.888C>G ENSP00000509770.1:p.Ser296=
ENST00000693763.1:n.2000C>G
ENST00000245407.8:c.840C>G MANE Select ENSP00000245407.3:p.Ser280=
ENST00000245407.7:c.840C>G ENSP00000245407.3:p.Ser280=
ENST00000415928.5:c.609C>G ENSP00000388838.1:p.Ser203=
ENST00000435065.6:c.912C>G ENSP00000402760.2:p.Ser304=
ENST00000437841.6:c.*155C>G ENSP00000400553.1:n.*155C>G
ENST00000448810.5:c.188C>G
ENST00000461013.5:n.8262C>G
NM_001308122.1:c.912C>G NP_001295051.1:p.Ser304=
NM_003060.3:c.840C>G NP_003051.1:p.Ser280=
XM_011543590.1:c.222C>G XP_011541892.1:p.Ser74=
XR_427718.1:n.1200C>G
XR_948290.1:n.1181C>G
XR_948291.1:n.1194C>G
XM_011543590.2:c.222C>G XP_011541892.1:p.Ser74=
XM_017009778.2:c.312C>G XP_016865267.1:p.Ser104=
XR_001742215.1:n.1181C>G
XR_001742216.1:n.1200C>G
XR_427718.2:n.1200C>G
XR_948290.2:n.1181C>G
XR_948291.2:n.1194C>G
NM_003060.4:c.840C>G MANE Select NP_003051.1:p.Ser280=
NM_001308122.2:c.912C>G NP_001295051.1:p.Ser304=