Canonical Allele Identifier: CA1139655881

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 956647
• ClinVar RCV Id: RCV001229491
• dbSNP Id: rs1751844120

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370182_132370183delinsAA , CM000667.2:g.132370182_132370183delinsAA	GRCh38
NC_000005.9:g.131705874_131705875delinsAA , CM000667.1:g.131705874_131705875delinsAA	GRCh37
NC_000005.8:g.131733773_131733774delinsAA	NCBI36
NG_008982.1:g.5474_5475delinsAA
NG_008982.2:g.5479_5480delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.210_211delinsAA	ENSP00000388838.2:p.Leu71Met
ENST00000435065.7:c.210_211delinsAA	ENSP00000402760.2:p.Leu71Met
ENST00000448810.6:c.210_211delinsAA	ENSP00000401860.2:p.Leu71Met
ENST00000686757.1:c.210_211delinsAA	ENSP00000510721.1:p.Leu71Met
ENST00000687740.1:n.344_345delinsAA
ENST00000689271.1:c.210_211delinsAA	ENSP00000510797.1:p.Leu71Met
ENST00000690900.1:c.210_211delinsAA	ENSP00000510703.1:p.Leu71Met
ENST00000692413.1:c.210_211delinsAA	ENSP00000509374.1:p.Leu71Met
ENST00000692825.1:c.210_211delinsAA	ENSP00000509447.1:p.Leu71Met
ENST00000693308.1:c.210_211delinsAA	ENSP00000509770.1:p.Leu71Met
ENST00000693763.1:n.344_345delinsAA
ENST00000245407.8:c.210_211delinsAA MANE Select	ENSP00000245407.3:p.Leu71Met
ENST00000245407.7:c.210_211delinsAA	ENSP00000245407.3:p.Leu71Met
ENST00000435065.6:c.210_211delinsAA	ENSP00000402760.2:p.Leu71Met
ENST00000437841.6:c.210_211delinsAA	ENSP00000400553.1:p.Leu71Met
NM_001308122.1:c.210_211delinsAA	NP_001295051.1:p.Leu71Met
NM_003060.3:c.210_211delinsAA	NP_003051.1:p.Leu71Met
XR_427718.1:n.479_480delinsAA
XR_948290.1:n.479_480delinsAA
XR_948291.1:n.479_480delinsAA
XM_011543590.2:c.-422_-421delinsAA	XP_011541892.1:n.-422_-421delinsAA
XR_001742215.1:n.479_480delinsAA
XR_001742216.1:n.479_480delinsAA
XR_427718.2:n.479_480delinsAA
XR_948290.2:n.479_480delinsAA
XR_948291.2:n.479_480delinsAA
NM_003060.4:c.210_211delinsAA MANE Select	NP_003051.1:p.Leu71Met
NM_001308122.2:c.210_211delinsAA	NP_001295051.1:p.Leu71Met