Canonical Allele Identifier: CA360805191

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721143T>A (hg19) ; chr5:g.132385451T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385451T>A , CM000667.2:g.132385451T>A	GRCh38
NC_000005.9:g.131721143T>A , CM000667.1:g.131721143T>A	GRCh37
NC_000005.8:g.131749042T>A	NCBI36
NG_008982.1:g.20743T>A
NG_008982.2:g.20748T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1137T>A	ENSP00000388838.2:n.665+1137T>A
ENST00000435065.7:c.848T>A	ENSP00000402760.2:p.Leu283Gln
ENST00000448810.6:c.776T>A	ENSP00000401860.2:p.Leu259Gln
ENST00000686757.1:c.795T>A	ENSP00000510721.1:p.Ala265=
ENST00000687740.1:n.1936T>A
ENST00000688151.1:n.1968T>A
ENST00000689271.1:c.671+1131T>A	ENSP00000510797.1:n.671+1131T>A
ENST00000690900.1:c.747T>A	ENSP00000510703.1:p.Ala249=
ENST00000692212.1:n.602T>A
ENST00000692355.1:c.204+1150T>A
ENST00000692413.1:c.795T>A	ENSP00000509374.1:p.Ala265=
ENST00000692825.1:c.844T>A	ENSP00000509447.1:n.844T>A
ENST00000693308.1:c.789T>A	ENSP00000509770.1:p.Ala263=
ENST00000693763.1:n.1936T>A
ENST00000245407.8:c.776T>A MANE Select	ENSP00000245407.3:p.Leu259Gln
ENST00000245407.7:c.776T>A	ENSP00000245407.3:p.Leu259Gln
ENST00000415928.5:c.545T>A	ENSP00000388838.1:p.Leu182Gln
ENST00000435065.6:c.848T>A	ENSP00000402760.2:p.Leu283Gln
ENST00000437841.6:c.*91T>A	ENSP00000400553.1:n.*91T>A
ENST00000448810.5:c.124T>A
ENST00000461013.5:n.8198T>A
NM_001308122.1:c.848T>A	NP_001295051.1:p.Leu283Gln
NM_003060.3:c.776T>A	NP_003051.1:p.Leu259Gln
XM_011543590.1:c.158T>A	XP_011541892.1:p.Leu53Gln
XR_427718.1:n.1136T>A
XR_948290.1:n.1117T>A
XR_948291.1:n.1130T>A
XM_011543590.2:c.158T>A	XP_011541892.1:p.Leu53Gln
XM_017009778.2:c.248T>A	XP_016865267.1:p.Leu83Gln
XR_001742215.1:n.1117T>A
XR_001742216.1:n.1136T>A
XR_427718.2:n.1136T>A
XR_948290.2:n.1117T>A
XR_948291.2:n.1130T>A
NM_003060.4:c.776T>A MANE Select	NP_003051.1:p.Leu259Gln
NM_001308122.2:c.848T>A	NP_001295051.1:p.Leu283Gln