Canonical Allele Identifier: CA3403946

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1449734
• ClinVar RCV Id: RCV001989776 ; RCV003229073
• dbSNP Id: rs373199019
• ExAC: 5:131721044 T / A
• gnomAD v2: 5-131721044-T-A
• gnomAD v3: 5-132385352-T-A
• gnomAD v4: 5-132385352-T-A
• MyVariant Identifiers: chr5:g.131721044T>A (hg19) ; chr5:g.132385352T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385352T>A , CM000667.2:g.132385352T>A	GRCh38
NC_000005.9:g.131721044T>A , CM000667.1:g.131721044T>A	GRCh37
NC_000005.8:g.131748943T>A	NCBI36
NG_008982.1:g.20644T>A
NG_008982.2:g.20649T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1038T>A	ENSP00000388838.2:n.665+1038T>A
ENST00000435065.7:c.749T>A	ENSP00000402760.2:p.Val250Asp
ENST00000448810.6:c.677T>A	ENSP00000401860.2:p.Val226Asp
ENST00000686757.1:c.696T>A	ENSP00000510721.1:p.Ser232Arg
ENST00000687740.1:n.1837T>A
ENST00000688151.1:n.1869T>A
ENST00000689271.1:c.671+1032T>A	ENSP00000510797.1:n.671+1032T>A
ENST00000690900.1:c.672-24T>A	ENSP00000510703.1:n.672-24T>A
ENST00000692212.1:n.503T>A
ENST00000692355.1:c.204+1051T>A
ENST00000692413.1:c.696T>A	ENSP00000509374.1:p.Ser232Arg
ENST00000692825.1:c.745T>A	ENSP00000509447.1:n.745T>A
ENST00000693308.1:c.690T>A	ENSP00000509770.1:p.Ser230Arg
ENST00000693763.1:n.1837T>A
ENST00000245407.8:c.677T>A MANE Select	ENSP00000245407.3:p.Val226Asp
ENST00000245407.7:c.677T>A	ENSP00000245407.3:p.Val226Asp
ENST00000415928.5:c.446T>A	ENSP00000388838.1:p.Val149Asp
ENST00000435065.6:c.749T>A	ENSP00000402760.2:p.Val250Asp
ENST00000437841.6:c.418T>A	ENSP00000400553.1:p.Phe140Ile
ENST00000448810.5:c.25T>A
ENST00000461013.5:n.8099T>A
NM_001308122.1:c.749T>A	NP_001295051.1:p.Val250Asp
NM_003060.3:c.677T>A	NP_003051.1:p.Val226Asp
XM_011543590.1:c.59T>A	XP_011541892.1:p.Val20Asp
XR_427718.1:n.1037T>A
XR_948290.1:n.1018T>A
XR_948291.1:n.1031T>A
XM_011543590.2:c.59T>A	XP_011541892.1:p.Val20Asp
XM_017009778.2:c.149T>A	XP_016865267.1:p.Val50Asp
XR_001742215.1:n.1018T>A
XR_001742216.1:n.1037T>A
XR_427718.2:n.1037T>A
XR_948290.2:n.1018T>A
XR_948291.2:n.1031T>A
NM_003060.4:c.677T>A MANE Select	NP_003051.1:p.Val226Asp
NM_001308122.2:c.749T>A	NP_001295051.1:p.Val250Asp