Canonical Allele Identifier: CA446330112
Gene: SLC22A5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131721042A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132385350A>G , CM000667.2:g.132385350A>G GRCh38
NC_000005.9:g.131721042A>G , CM000667.1:g.131721042A>G GRCh37
NC_000005.8:g.131748941A>G NCBI36
NG_008982.1:g.20642A>G
NG_008982.2:g.20647A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000415928.6:c.665+1036A>G ENSP00000388838.2:n.665+1036A>G
ENST00000435065.7:c.747A>G ENSP00000402760.2:p.Ser249=
ENST00000448810.6:c.675A>G ENSP00000401860.2:p.Ser225=
ENST00000686757.1:c.694A>G ENSP00000510721.1:p.Ser232Gly
ENST00000687740.1:n.1835A>G
ENST00000688151.1:n.1867A>G
ENST00000689271.1:c.671+1030A>G ENSP00000510797.1:n.671+1030A>G
ENST00000690900.1:c.672-26A>G ENSP00000510703.1:n.672-26A>G
ENST00000692212.1:n.501A>G
ENST00000692355.1:c.204+1049A>G
ENST00000692413.1:c.694A>G ENSP00000509374.1:p.Ser232Gly
ENST00000692825.1:c.743A>G ENSP00000509447.1:n.743A>G
ENST00000693308.1:c.688A>G ENSP00000509770.1:p.Ser230Gly
ENST00000693763.1:n.1835A>G
ENST00000245407.8:c.675A>G MANE Select ENSP00000245407.3:p.Ser225=
ENST00000245407.7:c.675A>G ENSP00000245407.3:p.Ser225=
ENST00000415928.5:c.444A>G ENSP00000388838.1:p.Ser148=
ENST00000435065.6:c.747A>G ENSP00000402760.2:p.Ser249=
ENST00000437841.6:c.416A>G ENSP00000400553.1:p.Gln139Arg
ENST00000448810.5:c.23A>G
ENST00000461013.5:n.8097A>G
NM_001308122.1:c.747A>G NP_001295051.1:p.Ser249=
NM_003060.3:c.675A>G NP_003051.1:p.Ser225=
XM_011543590.1:c.57A>G XP_011541892.1:p.Ser19=
XR_427718.1:n.1035A>G
XR_948290.1:n.1016A>G
XR_948291.1:n.1029A>G
XM_011543590.2:c.57A>G XP_011541892.1:p.Ser19=
XM_017009778.2:c.147A>G XP_016865267.1:p.Ser49=
XR_001742215.1:n.1016A>G
XR_001742216.1:n.1035A>G
XR_427718.2:n.1035A>G
XR_948290.2:n.1016A>G
XR_948291.2:n.1029A>G
NM_003060.4:c.675A>G MANE Select NP_003051.1:p.Ser225=
NM_001308122.2:c.747A>G NP_001295051.1:p.Ser249=