Canonical Allele Identifier: CA3404180

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1707655
• ClinVar RCV Id: RCV002286634
• dbSNP Id: rs377216516
• ExAC: 5:131729379 C / G
• gnomAD v2: 5-131729379-C-G
• gnomAD v4: 5-132393687-C-G
• MyVariant Identifiers: chr5:g.131729379C>G (hg19) ; chr5:g.132393687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393687C>G , CM000667.2:g.132393687C>G	GRCh38
NC_000005.9:g.131729379C>G , CM000667.1:g.131729379C>G	GRCh37
NC_000005.8:g.131757278C>G	NCBI36
NG_008982.1:g.28979C>G
NG_008982.2:g.28984C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-498C>G	ENSP00000388838.2:n.1292-498C>G
ENST00000435065.7:c.1534C>G	ENSP00000402760.2:p.Arg512Gly
ENST00000448810.6:c.*314C>G	ENSP00000401860.2:n.*314C>G
ENST00000685543.1:n.1603C>G
ENST00000686757.1:c.*626C>G	ENSP00000510721.1:n.*626C>G
ENST00000686868.1:n.454C>G
ENST00000687740.1:n.4147C>G
ENST00000688151.1:n.2772C>G
ENST00000689271.1:c.1309C>G	ENSP00000510797.1:p.Arg437Gly
ENST00000690900.1:c.*626C>G	ENSP00000510703.1:n.*626C>G
ENST00000692212.1:n.4602C>G
ENST00000692355.1:c.715C>G
ENST00000692413.1:c.1444C>G	ENSP00000509374.1:p.Arg482Gly
ENST00000692825.1:c.1530C>G	ENSP00000509447.1:n.1530C>G
ENST00000693308.1:c.1510C>G	ENSP00000509770.1:p.Arg504Gly
ENST00000693763.1:n.2622C>G
ENST00000245407.8:c.1462C>G MANE Select	ENSP00000245407.3:p.Arg488Gly
ENST00000245407.7:c.1462C>G	ENSP00000245407.3:p.Arg488Gly
ENST00000435065.6:c.1534C>G	ENSP00000402760.2:p.Arg512Gly
ENST00000447841.5:c.306C>G
ENST00000448810.5:c.724C>G
ENST00000461013.5:n.8884C>G
ENST00000475308.1:n.2140C>G
NM_001308122.1:c.1534C>G	NP_001295051.1:p.Arg512Gly
NM_003060.3:c.1462C>G	NP_003051.1:p.Arg488Gly
XM_011543590.1:c.844C>G	XP_011541892.1:p.Arg282Gly
XR_948290.1:n.1588C>G
XM_011543590.2:c.844C>G	XP_011541892.1:p.Arg282Gly
XM_017009778.2:c.934C>G	XP_016865267.1:p.Arg312Gly
XR_001742215.1:n.1717C>G
XR_001742216.1:n.1736C>G
XR_427718.2:n.1822C>G
XR_948290.2:n.1588C>G
XR_948291.2:n.1816C>G
NM_003060.4:c.1462C>G MANE Select	NP_003051.1:p.Arg488Gly
NM_001308122.2:c.1534C>G	NP_001295051.1:p.Arg512Gly