Canonical Allele Identifier: CA446330134
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131721060T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385368T>A , CM000667.2:g.132385368T>A GRCh38
NC_000005.9:g.131721060T>A , CM000667.1:g.131721060T>A GRCh37
NC_000005.8:g.131748959T>A NCBI36
NG_008982.1:g.20660T>A
NG_008982.2:g.20665T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1054T>A ENSP00000388838.2:n.665+1054T>A
ENST00000435065.7:c.765T>A ENSP00000402760.2:p.Ser255=
ENST00000448810.6:c.693T>A ENSP00000401860.2:p.Ser231=
ENST00000686757.1:c.712T>A ENSP00000510721.1:p.Tyr238Asn
ENST00000687740.1:n.1853T>A
ENST00000688151.1:n.1885T>A
ENST00000689271.1:c.671+1048T>A ENSP00000510797.1:n.671+1048T>A
ENST00000690900.1:c.672-8T>A ENSP00000510703.1:n.672-8T>A
ENST00000692212.1:n.519T>A
ENST00000692355.1:c.204+1067T>A
ENST00000692413.1:c.712T>A ENSP00000509374.1:p.Tyr238Asn
ENST00000692825.1:c.761T>A ENSP00000509447.1:n.761T>A
ENST00000693308.1:c.706T>A ENSP00000509770.1:p.Tyr236Asn
ENST00000693763.1:n.1853T>A
ENST00000245407.8:c.693T>A MANE Select ENSP00000245407.3:p.Ser231=
ENST00000245407.7:c.693T>A ENSP00000245407.3:p.Ser231=
ENST00000415928.5:c.462T>A ENSP00000388838.1:p.Ser154=
ENST00000435065.6:c.765T>A ENSP00000402760.2:p.Ser255=
ENST00000437841.6:c.*8T>A ENSP00000400553.1:n.*8T>A
ENST00000448810.5:c.41T>A
ENST00000461013.5:n.8115T>A
NM_001308122.1:c.765T>A NP_001295051.1:p.Ser255=
NM_003060.3:c.693T>A NP_003051.1:p.Ser231=
XM_011543590.1:c.75T>A XP_011541892.1:p.Ser25=
XR_427718.1:n.1053T>A
XR_948290.1:n.1034T>A
XR_948291.1:n.1047T>A
XM_011543590.2:c.75T>A XP_011541892.1:p.Ser25=
XM_017009778.2:c.165T>A XP_016865267.1:p.Ser55=
XR_001742215.1:n.1034T>A
XR_001742216.1:n.1053T>A
XR_427718.2:n.1053T>A
XR_948290.2:n.1034T>A
XR_948291.2:n.1047T>A
NM_003060.4:c.693T>A MANE Select NP_003051.1:p.Ser231=
NM_001308122.2:c.765T>A NP_001295051.1:p.Ser255=