Canonical Allele Identifier: CA360805167

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721131A>T (hg19) ; chr5:g.132385439A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385439A>T , CM000667.2:g.132385439A>T	GRCh38
NC_000005.9:g.131721131A>T , CM000667.1:g.131721131A>T	GRCh37
NC_000005.8:g.131749030A>T	NCBI36
NG_008982.1:g.20731A>T
NG_008982.2:g.20736A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1125A>T	ENSP00000388838.2:n.665+1125A>T
ENST00000435065.7:c.836A>T	ENSP00000402760.2:p.Asp279Val
ENST00000448810.6:c.764A>T	ENSP00000401860.2:p.Asp255Val
ENST00000686757.1:c.783A>T	ENSP00000510721.1:p.Arg261Ser
ENST00000687740.1:n.1924A>T
ENST00000688151.1:n.1956A>T
ENST00000689271.1:c.671+1119A>T	ENSP00000510797.1:n.671+1119A>T
ENST00000690900.1:c.735A>T	ENSP00000510703.1:p.Arg245Ser
ENST00000692212.1:n.590A>T
ENST00000692355.1:c.204+1138A>T
ENST00000692413.1:c.783A>T	ENSP00000509374.1:p.Arg261Ser
ENST00000692825.1:c.832A>T	ENSP00000509447.1:n.832A>T
ENST00000693308.1:c.777A>T	ENSP00000509770.1:p.Arg259Ser
ENST00000693763.1:n.1924A>T
ENST00000245407.8:c.764A>T MANE Select	ENSP00000245407.3:p.Asp255Val
ENST00000245407.7:c.764A>T	ENSP00000245407.3:p.Asp255Val
ENST00000415928.5:c.533A>T	ENSP00000388838.1:p.Asp178Val
ENST00000435065.6:c.836A>T	ENSP00000402760.2:p.Asp279Val
ENST00000437841.6:c.*79A>T	ENSP00000400553.1:n.*79A>T
ENST00000448810.5:c.112A>T
ENST00000461013.5:n.8186A>T
NM_001308122.1:c.836A>T	NP_001295051.1:p.Asp279Val
NM_003060.3:c.764A>T	NP_003051.1:p.Asp255Val
XM_011543590.1:c.146A>T	XP_011541892.1:p.Asp49Val
XR_427718.1:n.1124A>T
XR_948290.1:n.1105A>T
XR_948291.1:n.1118A>T
XM_011543590.2:c.146A>T	XP_011541892.1:p.Asp49Val
XM_017009778.2:c.236A>T	XP_016865267.1:p.Asp79Val
XR_001742215.1:n.1105A>T
XR_001742216.1:n.1124A>T
XR_427718.2:n.1124A>T
XR_948290.2:n.1105A>T
XR_948291.2:n.1118A>T
NM_003060.4:c.764A>T MANE Select	NP_003051.1:p.Asp255Val
NM_001308122.2:c.836A>T	NP_001295051.1:p.Asp279Val