Canonical Allele Identifier: CA2695198745

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2678795
• ClinVar RCV Id: RCV003472786

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393702dup , CM000667.2:g.132393702dup	GRCh38
NC_000005.9:g.131729394dup , CM000667.1:g.131729394dup	GRCh37
NC_000005.8:g.131757293dup	NCBI36
NG_008982.1:g.28994dup
NG_008982.2:g.28999dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1292-483dup	ENSP00000388838.2:n.1292-483dup
ENST00000435065.7:c.1549dup	ENSP00000402760.2:p.Ile517AsnfsTer30
ENST00000448810.6:c.*329dup	ENSP00000401860.2:n.*329dup
ENST00000685543.1:n.1618dup
ENST00000686757.1:c.*641dup	ENSP00000510721.1:n.*641dup
ENST00000686868.1:n.469dup
ENST00000687740.1:n.4162dup
ENST00000688151.1:n.2787dup
ENST00000689271.1:c.1324dup	ENSP00000510797.1:p.Ile442AsnfsTer30
ENST00000690900.1:c.*641dup	ENSP00000510703.1:n.*641dup
ENST00000692212.1:n.4617dup
ENST00000692355.1:c.730dup
ENST00000692413.1:c.1459dup	ENSP00000509374.1:p.Ile487AsnfsTer30
ENST00000692825.1:c.1545dup	ENSP00000509447.1:n.1545dup
ENST00000693308.1:c.1525dup	ENSP00000509770.1:p.Ile509AsnfsTer30
ENST00000693763.1:n.2637dup
ENST00000245407.8:c.1477dup MANE Select	ENSP00000245407.3:p.Ile493AsnfsTer30
ENST00000245407.7:c.1477dup	ENSP00000245407.3:p.Ile493AsnfsTer30
ENST00000435065.6:c.1549dup	ENSP00000402760.2:p.Ile517AsnfsTer30
ENST00000447841.5:c.321dup
ENST00000448810.5:c.739dup
ENST00000461013.5:n.8899dup
ENST00000475308.1:n.2155dup
NM_001308122.1:c.1549dup	NP_001295051.1:p.Ile517AsnfsTer30
NM_003060.3:c.1477dup	NP_003051.1:p.Ile493AsnfsTer30
XM_011543590.1:c.859dup	XP_011541892.1:p.Ile287AsnfsTer30
XR_948290.1:n.1603dup
XM_011543590.2:c.859dup	XP_011541892.1:p.Ile287AsnfsTer30
XM_017009778.2:c.949dup	XP_016865267.1:p.Ile317AsnfsTer30
XR_001742215.1:n.1732dup
XR_001742216.1:n.1751dup
XR_427718.2:n.1837dup
XR_948290.2:n.1603dup
XR_948291.2:n.1831dup
NM_003060.4:c.1477dup MANE Select	NP_003051.1:p.Ile493AsnfsTer30
NM_001308122.2:c.1549dup	NP_001295051.1:p.Ile517AsnfsTer30