Canonical Allele Identifier: CA3403978

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 2166280
• ClinVar RCV Id: RCV003091678
• dbSNP Id: rs774311428
• ExAC: 5:131721169 G / A
• gnomAD v2: 5-131721169-G-A
• gnomAD v3: 5-132385477-G-A
• gnomAD v4: 5-132385477-G-A
• MyVariant Identifiers: chr5:g.131721169G>A (hg19) ; chr5:g.132385477G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385477G>A , CM000667.2:g.132385477G>A	GRCh38
NC_000005.9:g.131721169G>A , CM000667.1:g.131721169G>A	GRCh37
NC_000005.8:g.131749068G>A	NCBI36
NG_008982.1:g.20769G>A
NG_008982.2:g.20774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1163G>A	ENSP00000388838.2:n.665+1163G>A
ENST00000435065.7:c.874G>A	ENSP00000402760.2:p.Val292Met
ENST00000448810.6:c.802G>A	ENSP00000401860.2:p.Val268Met
ENST00000686757.1:c.821G>A	ENSP00000510721.1:p.Gly274Asp
ENST00000687740.1:n.1962G>A
ENST00000688151.1:n.1994G>A
ENST00000689271.1:c.671+1157G>A	ENSP00000510797.1:n.671+1157G>A
ENST00000690900.1:c.773G>A	ENSP00000510703.1:p.Gly258Asp
ENST00000692212.1:n.628G>A
ENST00000692355.1:c.204+1176G>A
ENST00000692413.1:c.821G>A	ENSP00000509374.1:p.Gly274Asp
ENST00000692825.1:c.870G>A	ENSP00000509447.1:n.870G>A
ENST00000693308.1:c.815G>A	ENSP00000509770.1:p.Gly272Asp
ENST00000693763.1:n.1962G>A
ENST00000245407.8:c.802G>A MANE Select	ENSP00000245407.3:p.Val268Met
ENST00000245407.7:c.802G>A	ENSP00000245407.3:p.Val268Met
ENST00000415928.5:c.571G>A	ENSP00000388838.1:p.Val191Met
ENST00000435065.6:c.874G>A	ENSP00000402760.2:p.Val292Met
ENST00000437841.6:c.*117G>A	ENSP00000400553.1:n.*117G>A
ENST00000448810.5:c.150G>A
ENST00000461013.5:n.8224G>A
NM_001308122.1:c.874G>A	NP_001295051.1:p.Val292Met
NM_003060.3:c.802G>A	NP_003051.1:p.Val268Met
XM_011543590.1:c.184G>A	XP_011541892.1:p.Val62Met
XR_427718.1:n.1162G>A
XR_948290.1:n.1143G>A
XR_948291.1:n.1156G>A
XM_011543590.2:c.184G>A	XP_011541892.1:p.Val62Met
XM_017009778.2:c.274G>A	XP_016865267.1:p.Val92Met
XR_001742215.1:n.1143G>A
XR_001742216.1:n.1162G>A
XR_427718.2:n.1162G>A
XR_948290.2:n.1143G>A
XR_948291.2:n.1156G>A
NM_003060.4:c.802G>A MANE Select	NP_003051.1:p.Val268Met
NM_001308122.2:c.874G>A	NP_001295051.1:p.Val292Met