Canonical Allele Identifier: CA340580

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 6416
• ClinVar RCV Id: RCV000006785 ; RCV000579046
• dbSNP Id: rs121908886
• ExAC: 5:131722736 C / T
• gnomAD v2: 5-131722736-C-T
• gnomAD v3: 5-132387044-C-T
• gnomAD v4: 5-132387044-C-T
• MyVariant Identifiers: chr5:g.131722736C>T (hg19) ; chr5:g.132387044C>T (hg38)
• PubMed: PMID:10051646 ; PMID:10425211 ; PMID:10480371 ; PMID:15487009 ; PMID:15714519 ; PMID:16652335 ; PMID:20574985 ; PMID:21922592 ; PMID:23430798 ; PMID:23430869 ; PMID:25087612

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387044C>T , CM000667.2:g.132387044C>T	GRCh38
NC_000005.9:g.131722736C>T , CM000667.1:g.131722736C>T	GRCh37
NC_000005.8:g.131750635C>T	NCBI36
NG_008982.1:g.22336C>T
NG_008982.2:g.22341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.685C>T	ENSP00000388838.2:p.Arg229Ter
ENST00000435065.7:c.916C>T	ENSP00000402760.2:p.Arg306Ter
ENST00000448810.6:c.844C>T	ENSP00000401860.2:p.Arg282Ter
ENST00000686757.1:c.*8C>T	ENSP00000510721.1:n.*8C>T
ENST00000687740.1:n.3529C>T
ENST00000688151.1:n.2154C>T
ENST00000689271.1:c.691C>T	ENSP00000510797.1:p.Arg231Ter
ENST00000690900.1:c.*8C>T	ENSP00000510703.1:n.*8C>T
ENST00000692212.1:n.788C>T
ENST00000692355.1:c.205-1877C>T
ENST00000692413.1:c.844-18C>T	ENSP00000509374.1:n.844-18C>T
ENST00000692825.1:c.912C>T	ENSP00000509447.1:n.912C>T
ENST00000693308.1:c.892C>T	ENSP00000509770.1:p.Arg298Ter
ENST00000693763.1:n.2004C>T
ENST00000245407.8:c.844C>T MANE Select	ENSP00000245407.3:p.Arg282Ter
ENST00000245407.7:c.844C>T	ENSP00000245407.3:p.Arg282Ter
ENST00000415928.5:c.613C>T	ENSP00000388838.1:p.Arg205Ter
ENST00000435065.6:c.916C>T	ENSP00000402760.2:p.Arg306Ter
ENST00000437841.6:c.*159C>T	ENSP00000400553.1:n.*159C>T
ENST00000448810.5:c.192C>T
ENST00000461013.5:n.8266C>T
NM_001308122.1:c.916C>T	NP_001295051.1:p.Arg306Ter
NM_003060.3:c.844C>T	NP_003051.1:p.Arg282Ter
XM_011543590.1:c.226C>T	XP_011541892.1:p.Arg76Ter
XR_427718.1:n.1204C>T
XR_948290.1:n.1185C>T
XR_948291.1:n.1198C>T
XM_011543590.2:c.226C>T	XP_011541892.1:p.Arg76Ter
XM_017009778.2:c.316C>T	XP_016865267.1:p.Arg106Ter
XR_001742215.1:n.1185C>T
XR_001742216.1:n.1204C>T
XR_427718.2:n.1204C>T
XR_948290.2:n.1185C>T
XR_948291.2:n.1198C>T
NM_003060.4:c.844C>T MANE Select	NP_003051.1:p.Arg282Ter
NM_001308122.2:c.916C>T	NP_001295051.1:p.Arg306Ter