Canonical Allele Identifier: CA3404185

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1707660
• ClinVar RCV Id: RCV002286639
• dbSNP Id: rs754704279
• ExAC: 5:131729436 T / G
• gnomAD v2: 5-131729436-T-G
• gnomAD v4: 5-132393744-T-G
• MyVariant Identifiers: chr5:g.131729436T>G (hg19) ; chr5:g.132393744T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393744T>G , CM000667.2:g.132393744T>G	GRCh38
NC_000005.9:g.131729436T>G , CM000667.1:g.131729436T>G	GRCh37
NC_000005.8:g.131757335T>G	NCBI36
NG_008982.1:g.29036T>G
NG_008982.2:g.29041T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-441T>G	ENSP00000388838.2:n.1292-441T>G
ENST00000435065.7:c.1591T>G	ENSP00000402760.2:p.Leu531Val
ENST00000448810.6:c.*371T>G	ENSP00000401860.2:n.*371T>G
ENST00000685543.1:n.1660T>G
ENST00000686757.1:c.*683T>G	ENSP00000510721.1:n.*683T>G
ENST00000686868.1:n.511T>G
ENST00000687740.1:n.4204T>G
ENST00000688151.1:n.2829T>G
ENST00000689271.1:c.1366T>G	ENSP00000510797.1:p.Leu456Val
ENST00000690900.1:c.*683T>G	ENSP00000510703.1:n.*683T>G
ENST00000692212.1:n.4659T>G
ENST00000692355.1:c.772T>G
ENST00000692413.1:c.1501T>G	ENSP00000509374.1:p.Leu501Val
ENST00000692825.1:c.1587T>G	ENSP00000509447.1:n.1587T>G
ENST00000693308.1:c.1567T>G	ENSP00000509770.1:p.Leu523Val
ENST00000693763.1:n.2679T>G
ENST00000245407.8:c.1519T>G MANE Select	ENSP00000245407.3:p.Leu507Val
ENST00000245407.7:c.1519T>G	ENSP00000245407.3:p.Leu507Val
ENST00000435065.6:c.1591T>G	ENSP00000402760.2:p.Leu531Val
ENST00000447841.5:c.363T>G
ENST00000448810.5:c.781T>G
ENST00000461013.5:n.8941T>G
ENST00000475308.1:n.2197T>G
NM_001308122.1:c.1591T>G	NP_001295051.1:p.Leu531Val
NM_003060.3:c.1519T>G	NP_003051.1:p.Leu507Val
XM_011543590.1:c.901T>G	XP_011541892.1:p.Leu301Val
XR_948290.1:n.1645T>G
XM_011543590.2:c.901T>G	XP_011541892.1:p.Leu301Val
XM_017009778.2:c.991T>G	XP_016865267.1:p.Leu331Val
XR_001742215.1:n.1774T>G
XR_001742216.1:n.1793T>G
XR_427718.2:n.1879T>G
XR_948290.2:n.1645T>G
XR_948291.2:n.1873T>G
NM_003060.4:c.1519T>G MANE Select	NP_003051.1:p.Leu507Val
NM_001308122.2:c.1591T>G	NP_001295051.1:p.Leu531Val