Canonical Allele Identifier: CA360805519

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722725C>A (hg19) ; chr5:g.132387033C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387033C>A , CM000667.2:g.132387033C>A	GRCh38
NC_000005.9:g.131722725C>A , CM000667.1:g.131722725C>A	GRCh37
NC_000005.8:g.131750624C>A	NCBI36
NG_008982.1:g.22325C>A
NG_008982.2:g.22330C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.674C>A	ENSP00000388838.2:p.Pro225His
ENST00000435065.7:c.905C>A	ENSP00000402760.2:p.Pro302His
ENST00000448810.6:c.833C>A	ENSP00000401860.2:p.Pro278His
ENST00000686757.1:c.852C>A	ENSP00000510721.1:p.Pro284=
ENST00000687740.1:n.3518C>A
ENST00000688151.1:n.2143C>A
ENST00000689271.1:c.680C>A	ENSP00000510797.1:p.Pro227His
ENST00000690900.1:c.804C>A	ENSP00000510703.1:p.Pro268=
ENST00000692212.1:n.777C>A
ENST00000692355.1:c.205-1888C>A
ENST00000692413.1:c.844-29C>A	ENSP00000509374.1:n.844-29C>A
ENST00000692825.1:c.901C>A	ENSP00000509447.1:n.901C>A
ENST00000693308.1:c.881C>A	ENSP00000509770.1:p.Pro294His
ENST00000693763.1:n.1993C>A
ENST00000245407.8:c.833C>A MANE Select	ENSP00000245407.3:p.Pro278His
ENST00000245407.7:c.833C>A	ENSP00000245407.3:p.Pro278His
ENST00000415928.5:c.602C>A	ENSP00000388838.1:p.Pro201His
ENST00000435065.6:c.905C>A	ENSP00000402760.2:p.Pro302His
ENST00000437841.6:c.*148C>A	ENSP00000400553.1:n.*148C>A
ENST00000448810.5:c.181C>A
ENST00000461013.5:n.8255C>A
NM_001308122.1:c.905C>A	NP_001295051.1:p.Pro302His
NM_003060.3:c.833C>A	NP_003051.1:p.Pro278His
XM_011543590.1:c.215C>A	XP_011541892.1:p.Pro72His
XR_427718.1:n.1193C>A
XR_948290.1:n.1174C>A
XR_948291.1:n.1187C>A
XM_011543590.2:c.215C>A	XP_011541892.1:p.Pro72His
XM_017009778.2:c.305C>A	XP_016865267.1:p.Pro102His
XR_001742215.1:n.1174C>A
XR_001742216.1:n.1193C>A
XR_427718.2:n.1193C>A
XR_948290.2:n.1174C>A
XR_948291.2:n.1187C>A
NM_003060.4:c.833C>A MANE Select	NP_003051.1:p.Pro278His
NM_001308122.2:c.905C>A	NP_001295051.1:p.Pro302His