Canonical Allele Identifier: CA3403948

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1472238
• ClinVar RCV Id: RCV001975904
• dbSNP Id: rs546902674
• ExAC: 5:131721046 C / T
• gnomAD v2: 5-131721046-C-T
• gnomAD v3: 5-132385354-C-T
• gnomAD v4: 5-132385354-C-T
• COSMIC: COSM3826717 ; COSM3826718
• MyVariant Identifiers: chr5:g.131721046C>T (hg19) ; chr5:g.132385354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385354C>T , CM000667.2:g.132385354C>T	GRCh38
NC_000005.9:g.131721046C>T , CM000667.1:g.131721046C>T	GRCh37
NC_000005.8:g.131748945C>T	NCBI36
NG_008982.1:g.20646C>T
NG_008982.2:g.20651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1040C>T	ENSP00000388838.2:n.665+1040C>T
ENST00000435065.7:c.751C>T	ENSP00000402760.2:p.Arg251Cys
ENST00000448810.6:c.679C>T	ENSP00000401860.2:p.Arg227Cys
ENST00000686757.1:c.698C>T	ENSP00000510721.1:p.Ser233Leu
ENST00000687740.1:n.1839C>T
ENST00000688151.1:n.1871C>T
ENST00000689271.1:c.671+1034C>T	ENSP00000510797.1:n.671+1034C>T
ENST00000690900.1:c.672-22C>T	ENSP00000510703.1:n.672-22C>T
ENST00000692212.1:n.505C>T
ENST00000692355.1:c.204+1053C>T
ENST00000692413.1:c.698C>T	ENSP00000509374.1:p.Ser233Leu
ENST00000692825.1:c.747C>T	ENSP00000509447.1:n.747C>T
ENST00000693308.1:c.692C>T	ENSP00000509770.1:p.Ser231Leu
ENST00000693763.1:n.1839C>T
ENST00000245407.8:c.679C>T MANE Select	ENSP00000245407.3:p.Arg227Cys
ENST00000245407.7:c.679C>T	ENSP00000245407.3:p.Arg227Cys
ENST00000415928.5:c.448C>T	ENSP00000388838.1:p.Arg150Cys
ENST00000435065.6:c.751C>T	ENSP00000402760.2:p.Arg251Cys
ENST00000437841.6:c.420C>T	ENSP00000400553.1:p.Phe140=
ENST00000448810.5:c.27C>T
ENST00000461013.5:n.8101C>T
NM_001308122.1:c.751C>T	NP_001295051.1:p.Arg251Cys
NM_003060.3:c.679C>T	NP_003051.1:p.Arg227Cys
XM_011543590.1:c.61C>T	XP_011541892.1:p.Arg21Cys
XR_427718.1:n.1039C>T
XR_948290.1:n.1020C>T
XR_948291.1:n.1033C>T
XM_011543590.2:c.61C>T	XP_011541892.1:p.Arg21Cys
XM_017009778.2:c.151C>T	XP_016865267.1:p.Arg51Cys
XR_001742215.1:n.1020C>T
XR_001742216.1:n.1039C>T
XR_427718.2:n.1039C>T
XR_948290.2:n.1020C>T
XR_948291.2:n.1033C>T
NM_003060.4:c.679C>T MANE Select	NP_003051.1:p.Arg227Cys
NM_001308122.2:c.751C>T	NP_001295051.1:p.Arg251Cys