Canonical Allele Identifier: CA342653
Gene: SLC22A5 HGNC NCBI

Linked Data

dbSNP Id: rs386134205

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385349C>T , CM000667.2:g.132385349C>T GRCh38
NC_000005.9:g.131721041C>T , CM000667.1:g.131721041C>T GRCh37
NC_000005.8:g.131748940C>T NCBI36
NG_008982.1:g.20641C>T
NG_008982.2:g.20646C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.665+1035C>T ENSP00000388838.2:n.665+1035C>T
ENST00000435065.7:c.746C>T ENSP00000402760.2:p.Ser249Leu
ENST00000448810.6:c.674C>T ENSP00000401860.2:p.Ser225Leu
ENST00000686757.1:c.693C>T ENSP00000510721.1:p.Val231=
ENST00000687740.1:n.1834C>T
ENST00000688151.1:n.1866C>T
ENST00000689271.1:c.671+1029C>T ENSP00000510797.1:n.671+1029C>T
ENST00000690900.1:c.672-27C>T ENSP00000510703.1:n.672-27C>T
ENST00000692212.1:n.500C>T
ENST00000692355.1:c.204+1048C>T
ENST00000692413.1:c.693C>T ENSP00000509374.1:p.Val231=
ENST00000692825.1:c.742C>T ENSP00000509447.1:n.742C>T
ENST00000693308.1:c.687C>T ENSP00000509770.1:p.Val229=
ENST00000693763.1:n.1834C>T
ENST00000245407.8:c.674C>T MANE Select ENSP00000245407.3:p.Ser225Leu
ENST00000245407.7:c.674C>T ENSP00000245407.3:p.Ser225Leu
ENST00000415928.5:c.443C>T ENSP00000388838.1:p.Ser148Leu
ENST00000435065.6:c.746C>T ENSP00000402760.2:p.Ser249Leu
ENST00000437841.6:c.415C>T ENSP00000400553.1:p.Gln139Ter
ENST00000448810.5:c.22C>T
ENST00000461013.5:n.8096C>T
NM_001308122.1:c.746C>T NP_001295051.1:p.Ser249Leu
NM_003060.3:c.674C>T NP_003051.1:p.Ser225Leu
XM_011543590.1:c.56C>T XP_011541892.1:p.Ser19Leu
XR_427718.1:n.1034C>T
XR_948290.1:n.1015C>T
XR_948291.1:n.1028C>T
XM_011543590.2:c.56C>T XP_011541892.1:p.Ser19Leu
XM_017009778.2:c.146C>T XP_016865267.1:p.Ser49Leu
XR_001742215.1:n.1015C>T
XR_001742216.1:n.1034C>T
XR_427718.2:n.1034C>T
XR_948290.2:n.1015C>T
XR_948291.2:n.1028C>T
NM_003060.4:c.674C>T MANE Select NP_003051.1:p.Ser225Leu
NM_001308122.2:c.746C>T NP_001295051.1:p.Ser249Leu