Canonical Allele Identifier: CA360805014

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 581634
• ClinVar RCV Id: RCV000705521 ; RCV002226490
• dbSNP Id: rs386134206
• gnomAD v2: 5-131721059-C-G
• gnomAD v4: 5-132385367-C-G
• MyVariant Identifiers: chr5:g.131721059C>G (hg19) ; chr5:g.132385367C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385367C>G , CM000667.2:g.132385367C>G	GRCh38
NC_000005.9:g.131721059C>G , CM000667.1:g.131721059C>G	GRCh37
NC_000005.8:g.131748958C>G	NCBI36
NG_008982.1:g.20659C>G
NG_008982.2:g.20664C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1053C>G	ENSP00000388838.2:n.665+1053C>G
ENST00000435065.7:c.764C>G	ENSP00000402760.2:p.Ser255Cys
ENST00000448810.6:c.692C>G	ENSP00000401860.2:p.Ser231Cys
ENST00000686757.1:c.711C>G	ENSP00000510721.1:p.Leu237=
ENST00000687740.1:n.1852C>G
ENST00000688151.1:n.1884C>G
ENST00000689271.1:c.671+1047C>G	ENSP00000510797.1:n.671+1047C>G
ENST00000690900.1:c.672-9C>G	ENSP00000510703.1:n.672-9C>G
ENST00000692212.1:n.518C>G
ENST00000692355.1:c.204+1066C>G
ENST00000692413.1:c.711C>G	ENSP00000509374.1:p.Leu237=
ENST00000692825.1:c.760C>G	ENSP00000509447.1:n.760C>G
ENST00000693308.1:c.705C>G	ENSP00000509770.1:p.Leu235=
ENST00000693763.1:n.1852C>G
ENST00000245407.8:c.692C>G MANE Select	ENSP00000245407.3:p.Ser231Cys
ENST00000245407.7:c.692C>G	ENSP00000245407.3:p.Ser231Cys
ENST00000415928.5:c.461C>G	ENSP00000388838.1:p.Ser154Cys
ENST00000435065.6:c.764C>G	ENSP00000402760.2:p.Ser255Cys
ENST00000437841.6:c.*7C>G	ENSP00000400553.1:n.*7C>G
ENST00000448810.5:c.40C>G
ENST00000461013.5:n.8114C>G
NM_001308122.1:c.764C>G	NP_001295051.1:p.Ser255Cys
NM_003060.3:c.692C>G	NP_003051.1:p.Ser231Cys
XM_011543590.1:c.74C>G	XP_011541892.1:p.Ser25Cys
XR_427718.1:n.1052C>G
XR_948290.1:n.1033C>G
XR_948291.1:n.1046C>G
XM_011543590.2:c.74C>G	XP_011541892.1:p.Ser25Cys
XM_017009778.2:c.164C>G	XP_016865267.1:p.Ser55Cys
XR_001742215.1:n.1033C>G
XR_001742216.1:n.1052C>G
XR_427718.2:n.1052C>G
XR_948290.2:n.1033C>G
XR_948291.2:n.1046C>G
NM_003060.4:c.692C>G MANE Select	NP_003051.1:p.Ser231Cys
NM_001308122.2:c.764C>G	NP_001295051.1:p.Ser255Cys