Canonical Allele Identifier: CA360807742

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2073959
• ClinVar RCV Id: RCV002975951
• dbSNP Id: rs1416890501
• gnomAD v2: 5-131726534-C-G
• gnomAD v3: 5-132390842-C-G
• gnomAD v4: 5-132390842-C-G
• COSMIC: COSM4461420 ; COSM4461421
• MyVariant Identifiers: chr5:g.131726534C>G (hg19) ; chr5:g.132390842C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390842C>G , CM000667.2:g.132390842C>G	GRCh38
NC_000005.9:g.131726534C>G , CM000667.1:g.131726534C>G	GRCh37
NC_000005.8:g.131754433C>G	NCBI36
NG_008982.1:g.26134C>G
NG_008982.2:g.26139C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1046C>G	ENSP00000388838.2:p.Ser349Cys
ENST00000435065.7:c.1277C>G	ENSP00000402760.2:p.Ser426Cys
ENST00000448810.6:c.*57C>G	ENSP00000401860.2:n.*57C>G
ENST00000685543.1:n.1346C>G
ENST00000686757.1:c.*369C>G	ENSP00000510721.1:n.*369C>G
ENST00000687740.1:n.3890C>G
ENST00000688151.1:n.2515C>G
ENST00000689271.1:c.1052C>G	ENSP00000510797.1:p.Ser351Cys
ENST00000690900.1:c.*369C>G	ENSP00000510703.1:n.*369C>G
ENST00000692212.1:n.2817C>G
ENST00000692355.1:c.458C>G
ENST00000692413.1:c.1187C>G	ENSP00000509374.1:p.Ser396Cys
ENST00000692825.1:c.1273C>G	ENSP00000509447.1:n.1273C>G
ENST00000693308.1:c.1253C>G	ENSP00000509770.1:p.Ser418Cys
ENST00000693763.1:n.2365C>G
ENST00000245407.8:c.1205C>G MANE Select	ENSP00000245407.3:p.Ser402Cys
ENST00000245407.7:c.1205C>G	ENSP00000245407.3:p.Ser402Cys
ENST00000435065.6:c.1277C>G	ENSP00000402760.2:p.Ser426Cys
ENST00000447841.5:c.112-1591C>G
ENST00000448810.5:c.467C>G
ENST00000461013.5:n.8627C>G
ENST00000475308.1:n.1883C>G
ENST00000479605.5:n.308C>G
NM_001308122.1:c.1277C>G	NP_001295051.1:p.Ser426Cys
NM_003060.3:c.1205C>G	NP_003051.1:p.Ser402Cys
XM_011543590.1:c.587C>G	XP_011541892.1:p.Ser196Cys
XR_427718.1:n.1565C>G
XR_948290.1:n.1394-1591C>G
XR_948291.1:n.1559C>G
XM_011543590.2:c.587C>G	XP_011541892.1:p.Ser196Cys
XM_017009778.2:c.677C>G	XP_016865267.1:p.Ser226Cys
XR_001742215.1:n.1460C>G
XR_001742216.1:n.1479C>G
XR_427718.2:n.1565C>G
XR_948290.2:n.1394-1591C>G
XR_948291.2:n.1559C>G
NM_003060.4:c.1205C>G MANE Select	NP_003051.1:p.Ser402Cys
NM_001308122.2:c.1277C>G	NP_001295051.1:p.Ser426Cys