Canonical Allele Identifier: CA360805001

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721053T>G (hg19) ; chr5:g.132385361T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385361T>G , CM000667.2:g.132385361T>G	GRCh38
NC_000005.9:g.131721053T>G , CM000667.1:g.131721053T>G	GRCh37
NC_000005.8:g.131748952T>G	NCBI36
NG_008982.1:g.20653T>G
NG_008982.2:g.20658T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1047T>G	ENSP00000388838.2:n.665+1047T>G
ENST00000435065.7:c.758T>G	ENSP00000402760.2:p.Ile253Arg
ENST00000448810.6:c.686T>G	ENSP00000401860.2:p.Ile229Arg
ENST00000686757.1:c.705T>G	ENSP00000510721.1:p.Asn235Lys
ENST00000687740.1:n.1846T>G
ENST00000688151.1:n.1878T>G
ENST00000689271.1:c.671+1041T>G	ENSP00000510797.1:n.671+1041T>G
ENST00000690900.1:c.672-15T>G	ENSP00000510703.1:n.672-15T>G
ENST00000692212.1:n.512T>G
ENST00000692355.1:c.204+1060T>G
ENST00000692413.1:c.705T>G	ENSP00000509374.1:p.Asn235Lys
ENST00000692825.1:c.754T>G	ENSP00000509447.1:n.754T>G
ENST00000693308.1:c.699T>G	ENSP00000509770.1:p.Asn233Lys
ENST00000693763.1:n.1846T>G
ENST00000245407.8:c.686T>G MANE Select	ENSP00000245407.3:p.Ile229Arg
ENST00000245407.7:c.686T>G	ENSP00000245407.3:p.Ile229Arg
ENST00000415928.5:c.455T>G	ENSP00000388838.1:p.Ile152Arg
ENST00000435065.6:c.758T>G	ENSP00000402760.2:p.Ile253Arg
ENST00000437841.6:c.*1T>G	ENSP00000400553.1:n.*1T>G
ENST00000448810.5:c.34T>G
ENST00000461013.5:n.8108T>G
NM_001308122.1:c.758T>G	NP_001295051.1:p.Ile253Arg
NM_003060.3:c.686T>G	NP_003051.1:p.Ile229Arg
XM_011543590.1:c.68T>G	XP_011541892.1:p.Ile23Arg
XR_427718.1:n.1046T>G
XR_948290.1:n.1027T>G
XR_948291.1:n.1040T>G
XM_011543590.2:c.68T>G	XP_011541892.1:p.Ile23Arg
XM_017009778.2:c.158T>G	XP_016865267.1:p.Ile53Arg
XR_001742215.1:n.1027T>G
XR_001742216.1:n.1046T>G
XR_427718.2:n.1046T>G
XR_948290.2:n.1027T>G
XR_948291.2:n.1040T>G
NM_003060.4:c.686T>G MANE Select	NP_003051.1:p.Ile229Arg
NM_001308122.2:c.758T>G	NP_001295051.1:p.Ile253Arg