Canonical Allele Identifier: CA3404111

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1128499
• ClinVar RCV Id: RCV001461305
• dbSNP Id: rs372336902
• ExAC: 5:131726616 A / G
• gnomAD v2: 5-131726616-A-G
• gnomAD v3: 5-132390924-A-G
• gnomAD v4: 5-132390924-A-G
• MyVariant Identifiers: chr5:g.131726616A>G (hg19) ; chr5:g.132390924A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390924A>G , CM000667.2:g.132390924A>G	GRCh38
NC_000005.9:g.131726616A>G , CM000667.1:g.131726616A>G	GRCh37
NC_000005.8:g.131754515A>G	NCBI36
NG_008982.1:g.26216A>G
NG_008982.2:g.26221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1108+20A>G	ENSP00000388838.2:n.1108+20A>G
ENST00000435065.7:c.1339+20A>G	ENSP00000402760.2:n.1339+20A>G
ENST00000448810.6:c.*119+20A>G	ENSP00000401860.2:n.*119+20A>G
ENST00000685543.1:n.1408+20A>G
ENST00000686757.1:c.*431+20A>G	ENSP00000510721.1:n.*431+20A>G
ENST00000687740.1:n.3952+20A>G
ENST00000688151.1:n.2577+20A>G
ENST00000689271.1:c.1114+20A>G	ENSP00000510797.1:n.1114+20A>G
ENST00000690900.1:c.*431+20A>G	ENSP00000510703.1:n.*431+20A>G
ENST00000692212.1:n.2899A>G
ENST00000692355.1:c.520+20A>G
ENST00000692413.1:c.1249+20A>G	ENSP00000509374.1:n.1249+20A>G
ENST00000692825.1:c.1335+20A>G	ENSP00000509447.1:n.1335+20A>G
ENST00000693308.1:c.1315+20A>G	ENSP00000509770.1:n.1315+20A>G
ENST00000693763.1:n.2427+20A>G
ENST00000245407.8:c.1267+20A>G MANE Select	ENSP00000245407.3:n.1267+20A>G
ENST00000245407.7:c.1267+20A>G	ENSP00000245407.3:n.1267+20A>G
ENST00000435065.6:c.1339+20A>G	ENSP00000402760.2:n.1339+20A>G
ENST00000447841.5:c.112-1509A>G
ENST00000448810.5:c.529+20A>G
ENST00000461013.5:n.8689+20A>G
ENST00000475308.1:n.1945+20A>G
ENST00000479605.5:n.370+20A>G
NM_001308122.1:c.1339+20A>G	NP_001295051.1:n.1339+20A>G
NM_003060.3:c.1267+20A>G	NP_003051.1:n.1267+20A>G
XM_011543590.1:c.649+20A>G	XP_011541892.1:n.649+20A>G
XR_427718.1:n.1627+20A>G
XR_948290.1:n.1394-1509A>G
XR_948291.1:n.1621+20A>G
XM_011543590.2:c.649+20A>G	XP_011541892.1:n.649+20A>G
XM_017009778.2:c.739+20A>G	XP_016865267.1:n.739+20A>G
XR_001742215.1:n.1522+20A>G
XR_001742216.1:n.1541+20A>G
XR_427718.2:n.1627+20A>G
XR_948290.2:n.1394-1509A>G
XR_948291.2:n.1621+20A>G
NM_003060.4:c.1267+20A>G MANE Select	NP_003051.1:n.1267+20A>G
NM_001308122.2:c.1339+20A>G	NP_001295051.1:n.1339+20A>G