Canonical Allele Identifier: CA360805045

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721076A>T (hg19) ; chr5:g.132385384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385384A>T , CM000667.2:g.132385384A>T	GRCh38
NC_000005.9:g.131721076A>T , CM000667.1:g.131721076A>T	GRCh37
NC_000005.8:g.131748975A>T	NCBI36
NG_008982.1:g.20676A>T
NG_008982.2:g.20681A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1070A>T	ENSP00000388838.2:n.665+1070A>T
ENST00000435065.7:c.781A>T	ENSP00000402760.2:p.Ile261Leu
ENST00000448810.6:c.709A>T	ENSP00000401860.2:p.Ile237Leu
ENST00000686757.1:c.728A>T	ENSP00000510721.1:p.His243Leu
ENST00000687740.1:n.1869A>T
ENST00000688151.1:n.1901A>T
ENST00000689271.1:c.671+1064A>T	ENSP00000510797.1:n.671+1064A>T
ENST00000690900.1:c.680A>T	ENSP00000510703.1:p.His227Leu
ENST00000692212.1:n.535A>T
ENST00000692355.1:c.204+1083A>T
ENST00000692413.1:c.728A>T	ENSP00000509374.1:p.His243Leu
ENST00000692825.1:c.777A>T	ENSP00000509447.1:n.777A>T
ENST00000693308.1:c.722A>T	ENSP00000509770.1:p.His241Leu
ENST00000693763.1:n.1869A>T
ENST00000245407.8:c.709A>T MANE Select	ENSP00000245407.3:p.Ile237Leu
ENST00000245407.7:c.709A>T	ENSP00000245407.3:p.Ile237Leu
ENST00000415928.5:c.478A>T	ENSP00000388838.1:p.Ile160Leu
ENST00000435065.6:c.781A>T	ENSP00000402760.2:p.Ile261Leu
ENST00000437841.6:c.*24A>T	ENSP00000400553.1:n.*24A>T
ENST00000448810.5:c.57A>T
ENST00000461013.5:n.8131A>T
NM_001308122.1:c.781A>T	NP_001295051.1:p.Ile261Leu
NM_003060.3:c.709A>T	NP_003051.1:p.Ile237Leu
XM_011543590.1:c.91A>T	XP_011541892.1:p.Ile31Leu
XR_427718.1:n.1069A>T
XR_948290.1:n.1050A>T
XR_948291.1:n.1063A>T
XM_011543590.2:c.91A>T	XP_011541892.1:p.Ile31Leu
XM_017009778.2:c.181A>T	XP_016865267.1:p.Ile61Leu
XR_001742215.1:n.1050A>T
XR_001742216.1:n.1069A>T
XR_427718.2:n.1069A>T
XR_948290.2:n.1050A>T
XR_948291.2:n.1063A>T
NM_003060.4:c.709A>T MANE Select	NP_003051.1:p.Ile237Leu
NM_001308122.2:c.781A>T	NP_001295051.1:p.Ile261Leu