Canonical Allele Identifier: CA360804969

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721035G>A (hg19) ; chr5:g.132385343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385343G>A , CM000667.2:g.132385343G>A	GRCh38
NC_000005.9:g.131721035G>A , CM000667.1:g.131721035G>A	GRCh37
NC_000005.8:g.131748934G>A	NCBI36
NG_008982.1:g.20635G>A
NG_008982.2:g.20640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1029G>A	ENSP00000388838.2:n.665+1029G>A
ENST00000435065.7:c.740G>A	ENSP00000402760.2:p.Gly247Asp
ENST00000448810.6:c.668G>A	ENSP00000401860.2:p.Gly223Asp
ENST00000686757.1:c.687G>A	ENSP00000510721.1:p.Trp229Ter
ENST00000687740.1:n.1828G>A
ENST00000688151.1:n.1860G>A
ENST00000689271.1:c.671+1023G>A	ENSP00000510797.1:n.671+1023G>A
ENST00000690900.1:c.672-33G>A	ENSP00000510703.1:n.672-33G>A
ENST00000692212.1:n.494G>A
ENST00000692355.1:c.204+1042G>A
ENST00000692413.1:c.687G>A	ENSP00000509374.1:p.Trp229Ter
ENST00000692825.1:c.736G>A	ENSP00000509447.1:n.736G>A
ENST00000693308.1:c.681G>A	ENSP00000509770.1:p.Trp227Ter
ENST00000693763.1:n.1828G>A
ENST00000245407.8:c.668G>A MANE Select	ENSP00000245407.3:p.Gly223Asp
ENST00000245407.7:c.668G>A	ENSP00000245407.3:p.Gly223Asp
ENST00000415928.5:c.437G>A	ENSP00000388838.1:p.Gly146Asp
ENST00000435065.6:c.740G>A	ENSP00000402760.2:p.Gly247Asp
ENST00000437841.6:c.409G>A	ENSP00000400553.1:p.Ala137Thr
ENST00000448810.5:c.16G>A
ENST00000461013.5:n.8090G>A
NM_001308122.1:c.740G>A	NP_001295051.1:p.Gly247Asp
NM_003060.3:c.668G>A	NP_003051.1:p.Gly223Asp
XM_011543590.1:c.50G>A	XP_011541892.1:p.Gly17Asp
XR_427718.1:n.1028G>A
XR_948290.1:n.1009G>A
XR_948291.1:n.1022G>A
XM_011543590.2:c.50G>A	XP_011541892.1:p.Gly17Asp
XM_017009778.2:c.140G>A	XP_016865267.1:p.Gly47Asp
XR_001742215.1:n.1009G>A
XR_001742216.1:n.1028G>A
XR_427718.2:n.1028G>A
XR_948290.2:n.1009G>A
XR_948291.2:n.1022G>A
NM_003060.4:c.668G>A MANE Select	NP_003051.1:p.Gly223Asp
NM_001308122.2:c.740G>A	NP_001295051.1:p.Gly247Asp