Canonical Allele Identifier: CA3403949

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 378583
• ClinVar RCV Id: RCV000427349 ; RCV000546517
• dbSNP Id: rs185551386
• ExAC: 5:131721047 G / A
• gnomAD v2: 5-131721047-G-A
• gnomAD v3: 5-132385355-G-A
• gnomAD v4: 5-132385355-G-A
• COSMIC: COSM6455953 ; COSM6455954
• MyVariant Identifiers: chr5:g.131721047G>A (hg19) ; chr5:g.132385355G>A (hg38)
• PubMed: PMID:20574985

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385355G>A , CM000667.2:g.132385355G>A	GRCh38
NC_000005.9:g.131721047G>A , CM000667.1:g.131721047G>A	GRCh37
NC_000005.8:g.131748946G>A	NCBI36
NG_008982.1:g.20647G>A
NG_008982.2:g.20652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1041G>A	ENSP00000388838.2:n.665+1041G>A
ENST00000435065.7:c.752G>A	ENSP00000402760.2:p.Arg251His
ENST00000448810.6:c.680G>A	ENSP00000401860.2:p.Arg227His
ENST00000686757.1:c.699G>A	ENSP00000510721.1:p.Ser233=
ENST00000687740.1:n.1840G>A
ENST00000688151.1:n.1872G>A
ENST00000689271.1:c.671+1035G>A	ENSP00000510797.1:n.671+1035G>A
ENST00000690900.1:c.672-21G>A	ENSP00000510703.1:n.672-21G>A
ENST00000692212.1:n.506G>A
ENST00000692355.1:c.204+1054G>A
ENST00000692413.1:c.699G>A	ENSP00000509374.1:p.Ser233=
ENST00000692825.1:c.748G>A	ENSP00000509447.1:n.748G>A
ENST00000693308.1:c.693G>A	ENSP00000509770.1:p.Ser231=
ENST00000693763.1:n.1840G>A
ENST00000245407.8:c.680G>A MANE Select	ENSP00000245407.3:p.Arg227His
ENST00000245407.7:c.680G>A	ENSP00000245407.3:p.Arg227His
ENST00000415928.5:c.449G>A	ENSP00000388838.1:p.Arg150His
ENST00000435065.6:c.752G>A	ENSP00000402760.2:p.Arg251His
ENST00000437841.6:c.421G>A	ENSP00000400553.1:p.Val141Ile
ENST00000448810.5:c.28G>A
ENST00000461013.5:n.8102G>A
NM_001308122.1:c.752G>A	NP_001295051.1:p.Arg251His
NM_003060.3:c.680G>A	NP_003051.1:p.Arg227His
XM_011543590.1:c.62G>A	XP_011541892.1:p.Arg21His
XR_427718.1:n.1040G>A
XR_948290.1:n.1021G>A
XR_948291.1:n.1034G>A
XM_011543590.2:c.62G>A	XP_011541892.1:p.Arg21His
XM_017009778.2:c.152G>A	XP_016865267.1:p.Arg51His
XR_001742215.1:n.1021G>A
XR_001742216.1:n.1040G>A
XR_427718.2:n.1040G>A
XR_948290.2:n.1021G>A
XR_948291.2:n.1034G>A
NM_003060.4:c.680G>A MANE Select	NP_003051.1:p.Arg227His
NM_001308122.2:c.752G>A	NP_001295051.1:p.Arg251His