Canonical Allele Identifier: CA3404181

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1707644
• ClinVar RCV Id: RCV002286623
• dbSNP Id: rs750468729
• ExAC: 5:131729422 C / T
• gnomAD v2: 5-131729422-C-T
• gnomAD v4: 5-132393730-C-T
• MyVariant Identifiers: chr5:g.131729422C>T (hg19) ; chr5:g.132393730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393730C>T , CM000667.2:g.132393730C>T	GRCh38
NC_000005.9:g.131729422C>T , CM000667.1:g.131729422C>T	GRCh37
NC_000005.8:g.131757321C>T	NCBI36
NG_008982.1:g.29022C>T
NG_008982.2:g.29027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-455C>T	ENSP00000388838.2:n.1292-455C>T
ENST00000435065.7:c.1577C>T	ENSP00000402760.2:p.Thr526Ile
ENST00000448810.6:c.*357C>T	ENSP00000401860.2:n.*357C>T
ENST00000685543.1:n.1646C>T
ENST00000686757.1:c.*669C>T	ENSP00000510721.1:n.*669C>T
ENST00000686868.1:n.497C>T
ENST00000687740.1:n.4190C>T
ENST00000688151.1:n.2815C>T
ENST00000689271.1:c.1352C>T	ENSP00000510797.1:p.Thr451Ile
ENST00000690900.1:c.*669C>T	ENSP00000510703.1:n.*669C>T
ENST00000692212.1:n.4645C>T
ENST00000692355.1:c.758C>T
ENST00000692413.1:c.1487C>T	ENSP00000509374.1:p.Thr496Ile
ENST00000692825.1:c.1573C>T	ENSP00000509447.1:n.1573C>T
ENST00000693308.1:c.1553C>T	ENSP00000509770.1:p.Thr518Ile
ENST00000693763.1:n.2665C>T
ENST00000245407.8:c.1505C>T MANE Select	ENSP00000245407.3:p.Thr502Ile
ENST00000245407.7:c.1505C>T	ENSP00000245407.3:p.Thr502Ile
ENST00000435065.6:c.1577C>T	ENSP00000402760.2:p.Thr526Ile
ENST00000447841.5:c.349C>T
ENST00000448810.5:c.767C>T
ENST00000461013.5:n.8927C>T
ENST00000475308.1:n.2183C>T
NM_001308122.1:c.1577C>T	NP_001295051.1:p.Thr526Ile
NM_003060.3:c.1505C>T	NP_003051.1:p.Thr502Ile
XM_011543590.1:c.887C>T	XP_011541892.1:p.Thr296Ile
XR_948290.1:n.1631C>T
XM_011543590.2:c.887C>T	XP_011541892.1:p.Thr296Ile
XM_017009778.2:c.977C>T	XP_016865267.1:p.Thr326Ile
XR_001742215.1:n.1760C>T
XR_001742216.1:n.1779C>T
XR_427718.2:n.1865C>T
XR_948290.2:n.1631C>T
XR_948291.2:n.1859C>T
NM_003060.4:c.1505C>T MANE Select	NP_003051.1:p.Thr502Ile
NM_001308122.2:c.1577C>T	NP_001295051.1:p.Thr526Ile