Canonical Allele Identifier: CA2695198742

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2678805
• ClinVar RCV Id: RCV003472796

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370356dup , CM000667.2:g.132370356dup	GRCh38
NC_000005.9:g.131706048dup , CM000667.1:g.131706048dup	GRCh37
NC_000005.8:g.131733947dup	NCBI36
NG_008982.1:g.5648dup
NG_008982.2:g.5653dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.384dup	ENSP00000388838.2:p.Val129CysfsTer9
ENST00000435065.7:c.384dup	ENSP00000402760.2:p.Val129CysfsTer?
ENST00000448810.6:c.384dup	ENSP00000401860.2:p.Val129CysfsTer9
ENST00000686757.1:c.384dup	ENSP00000510721.1:p.Val129CysfsTer9
ENST00000687740.1:n.518dup
ENST00000689271.1:c.384dup	ENSP00000510797.1:p.Val129CysfsTer9
ENST00000690900.1:c.384dup	ENSP00000510703.1:p.Val129CysfsTer9
ENST00000692413.1:c.384dup	ENSP00000509374.1:p.Val129CysfsTer9
ENST00000692825.1:c.384dup	ENSP00000509447.1:p.Val129CysfsTer?
ENST00000693308.1:c.384dup	ENSP00000509770.1:p.Val129CysfsTer9
ENST00000693763.1:n.518dup
ENST00000245407.8:c.384dup MANE Select	ENSP00000245407.3:p.Val129CysfsTer9
ENST00000245407.7:c.384dup	ENSP00000245407.3:p.Val129CysfsTer9
ENST00000415928.5:c.81dup	ENSP00000388838.1:p.Val28CysfsTer?
ENST00000435065.6:c.384dup	ENSP00000402760.2:p.Val129CysfsTer?
ENST00000437841.6:c.384dup	ENSP00000400553.1:p.Val129CysfsTer?
NM_001308122.1:c.384dup	NP_001295051.1:p.Val129CysfsTer?
NM_003060.3:c.384dup	NP_003051.1:p.Val129CysfsTer9
XR_427718.1:n.653dup
XR_948290.1:n.653dup
XR_948291.1:n.653dup
XM_011543590.2:c.-248dup	XP_011541892.1:n.-248dup
XM_017009778.2:c.-41dup	XP_016865267.1:n.-41dup
XR_001742215.1:n.653dup
XR_001742216.1:n.653dup
XR_427718.2:n.653dup
XR_948290.2:n.653dup
XR_948291.2:n.653dup
NM_003060.4:c.384dup MANE Select	NP_003051.1:p.Val129CysfsTer9
NM_001308122.2:c.384dup	NP_001295051.1:p.Val129CysfsTer?