Canonical Allele Identifier: CA342622

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 25359
• ClinVar RCV Id: RCV000022306
• dbSNP Id: rs377767447
• ExAC: 5:131705895 GC / G
• gnomAD v2: 5-131705895-GC-G
• gnomAD v4: 5-132370203-GC-G
• MyVariant Identifiers: chr5:g.131705896del (hg19) ; chr5:g.132370204del (hg38)
• PubMed: PMID:16652335

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370207del , CM000667.2:g.132370207del	GRCh38
NC_000005.9:g.131705899del , CM000667.1:g.131705899del	GRCh37
NC_000005.8:g.131733798del	NCBI36
NG_008982.1:g.5499del
NG_008982.2:g.5504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.235del	ENSP00000388838.2:p.His79ThrfsTer?
ENST00000435065.7:c.235del	ENSP00000402760.2:p.His79ThrfsTer?
ENST00000448810.6:c.235del	ENSP00000401860.2:p.His79ThrfsTer?
ENST00000686757.1:c.235del	ENSP00000510721.1:p.His79ThrfsTer?
ENST00000687740.1:n.369del
ENST00000689271.1:c.235del	ENSP00000510797.1:p.His79ThrfsTer?
ENST00000690900.1:c.235del	ENSP00000510703.1:p.His79ThrfsTer?
ENST00000692413.1:c.235del	ENSP00000509374.1:p.His79ThrfsTer?
ENST00000692825.1:c.235del	ENSP00000509447.1:p.His79ThrfsTer?
ENST00000693308.1:c.235del	ENSP00000509770.1:p.His79ThrfsTer?
ENST00000693763.1:n.369del
ENST00000245407.8:c.235del MANE Select	ENSP00000245407.3:p.His79ThrfsTer?
ENST00000245407.7:c.235del	ENSP00000245407.3:p.His79ThrfsTer?
ENST00000435065.6:c.235del	ENSP00000402760.2:p.His79ThrfsTer?
ENST00000437841.6:c.235del	ENSP00000400553.1:p.His79ThrfsTer?
NM_001308122.1:c.235del	NP_001295051.1:p.His79ThrfsTer?
NM_003060.3:c.235del	NP_003051.1:p.His79ThrfsTer?
XR_427718.1:n.504del
XR_948290.1:n.504del
XR_948291.1:n.504del
XM_011543590.2:c.-397del	XP_011541892.1:n.-397del
XR_001742215.1:n.504del
XR_001742216.1:n.504del
XR_427718.2:n.504del
XR_948290.2:n.504del
XR_948291.2:n.504del
NM_003060.4:c.235del MANE Select	NP_003051.1:p.His79ThrfsTer?
NM_001308122.2:c.235del	NP_001295051.1:p.His79ThrfsTer?