Canonical Allele Identifier: CA3404073

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 651951
• ClinVar RCV Id: RCV000807405
• dbSNP Id: rs61731073
• ExAC: 5:131726401 T / A
• gnomAD v2: 5-131726401-T-A
• gnomAD v3: 5-132390709-T-A
• gnomAD v4: 5-132390709-T-A
• MyVariant Identifiers: chr5:g.131726401T>A (hg19) ; chr5:g.132390709T>A (hg38)
• PubMed: PMID:20574985

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390709T>A , CM000667.2:g.132390709T>A	GRCh38
NC_000005.9:g.131726401T>A , CM000667.1:g.131726401T>A	GRCh37
NC_000005.8:g.131754300T>A	NCBI36
NG_008982.1:g.26001T>A
NG_008982.2:g.26006T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.913T>A	ENSP00000388838.2:p.Tyr305Asn
ENST00000435065.7:c.1144T>A	ENSP00000402760.2:p.Tyr382Asn
ENST00000448810.6:c.1053-67T>A	ENSP00000401860.2:n.1053-67T>A
ENST00000685543.1:n.1213T>A
ENST00000686757.1:c.*236T>A	ENSP00000510721.1:n.*236T>A
ENST00000687740.1:n.3757T>A
ENST00000688151.1:n.2382T>A
ENST00000689271.1:c.919T>A	ENSP00000510797.1:p.Tyr307Asn
ENST00000690900.1:c.*236T>A	ENSP00000510703.1:n.*236T>A
ENST00000692212.1:n.2684T>A
ENST00000692355.1:c.325T>A
ENST00000692413.1:c.1054T>A	ENSP00000509374.1:p.Tyr352Asn
ENST00000692825.1:c.1140T>A	ENSP00000509447.1:n.1140T>A
ENST00000693308.1:c.1120T>A	ENSP00000509770.1:p.Tyr374Asn
ENST00000693763.1:n.2232T>A
ENST00000245407.8:c.1072T>A MANE Select	ENSP00000245407.3:p.Tyr358Asn
ENST00000245407.7:c.1072T>A	ENSP00000245407.3:p.Tyr358Asn
ENST00000435065.6:c.1144T>A	ENSP00000402760.2:p.Tyr382Asn
ENST00000447841.5:c.111+1688T>A
ENST00000448810.5:c.401-67T>A
ENST00000461013.5:n.8494T>A
ENST00000475308.1:n.1750T>A
ENST00000479605.5:n.175T>A
NM_001308122.1:c.1144T>A	NP_001295051.1:p.Tyr382Asn
NM_003060.3:c.1072T>A	NP_003051.1:p.Tyr358Asn
XM_011543590.1:c.454T>A	XP_011541892.1:p.Tyr152Asn
XR_427718.1:n.1432T>A
XR_948290.1:n.1393+1688T>A
XR_948291.1:n.1426T>A
XM_011543590.2:c.454T>A	XP_011541892.1:p.Tyr152Asn
XM_017009778.2:c.544T>A	XP_016865267.1:p.Tyr182Asn
XR_001742215.1:n.1394-67T>A
XR_001742216.1:n.1413-67T>A
XR_427718.2:n.1432T>A
XR_948290.2:n.1393+1688T>A
XR_948291.2:n.1426T>A
NM_003060.4:c.1072T>A MANE Select	NP_003051.1:p.Tyr358Asn
NM_001308122.2:c.1144T>A	NP_001295051.1:p.Tyr382Asn