Canonical Allele Identifier: CA446330116
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131721048T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385356T>A , CM000667.2:g.132385356T>A GRCh38
NC_000005.9:g.131721048T>A , CM000667.1:g.131721048T>A GRCh37
NC_000005.8:g.131748947T>A NCBI36
NG_008982.1:g.20648T>A
NG_008982.2:g.20653T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000415928.6:c.665+1042T>A ENSP00000388838.2:n.665+1042T>A
ENST00000435065.7:c.753T>A ENSP00000402760.2:p.Arg251=
ENST00000448810.6:c.681T>A ENSP00000401860.2:p.Arg227=
ENST00000686757.1:c.700T>A ENSP00000510721.1:p.Tyr234Asn
ENST00000687740.1:n.1841T>A
ENST00000688151.1:n.1873T>A
ENST00000689271.1:c.671+1036T>A ENSP00000510797.1:n.671+1036T>A
ENST00000690900.1:c.672-20T>A ENSP00000510703.1:n.672-20T>A
ENST00000692212.1:n.507T>A
ENST00000692355.1:c.204+1055T>A
ENST00000692413.1:c.700T>A ENSP00000509374.1:p.Tyr234Asn
ENST00000692825.1:c.749T>A ENSP00000509447.1:n.749T>A
ENST00000693308.1:c.694T>A ENSP00000509770.1:p.Tyr232Asn
ENST00000693763.1:n.1841T>A
ENST00000245407.8:c.681T>A MANE Select ENSP00000245407.3:p.Arg227=
ENST00000245407.7:c.681T>A ENSP00000245407.3:p.Arg227=
ENST00000415928.5:c.450T>A ENSP00000388838.1:p.Arg150=
ENST00000435065.6:c.753T>A ENSP00000402760.2:p.Arg251=
ENST00000437841.6:c.422T>A ENSP00000400553.1:p.Val141Glu
ENST00000448810.5:c.29T>A
ENST00000461013.5:n.8103T>A
NM_001308122.1:c.753T>A NP_001295051.1:p.Arg251=
NM_003060.3:c.681T>A NP_003051.1:p.Arg227=
XM_011543590.1:c.63T>A XP_011541892.1:p.Arg21=
XR_427718.1:n.1041T>A
XR_948290.1:n.1022T>A
XR_948291.1:n.1035T>A
XM_011543590.2:c.63T>A XP_011541892.1:p.Arg21=
XM_017009778.2:c.153T>A XP_016865267.1:p.Arg51=
XR_001742215.1:n.1022T>A
XR_001742216.1:n.1041T>A
XR_427718.2:n.1041T>A
XR_948290.2:n.1022T>A
XR_948291.2:n.1035T>A
NM_003060.4:c.681T>A MANE Select NP_003051.1:p.Arg227=
NM_001308122.2:c.753T>A NP_001295051.1:p.Arg251=