Canonical Allele Identifier: CA3404085

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 460390
• ClinVar RCV Id: RCV000542713 ; RCV000615148
• dbSNP Id: rs202219455
• ExAC: 5:131726454 C / T
• gnomAD v2: 5-131726454-C-T
• gnomAD v3: 5-132390762-C-T
• gnomAD v4: 5-132390762-C-T
• MyVariant Identifiers: chr5:g.131726454C>T (hg19) ; chr5:g.132390762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390762C>T , CM000667.2:g.132390762C>T	GRCh38
NC_000005.9:g.131726454C>T , CM000667.1:g.131726454C>T	GRCh37
NC_000005.8:g.131754353C>T	NCBI36
NG_008982.1:g.26054C>T
NG_008982.2:g.26059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.966C>T	ENSP00000388838.2:p.Asn322=
ENST00000435065.7:c.1197C>T	ENSP00000402760.2:p.Asn399=
ENST00000448810.6:c.1053-14C>T	ENSP00000401860.2:n.1053-14C>T
ENST00000685543.1:n.1266C>T
ENST00000686757.1:c.*289C>T	ENSP00000510721.1:n.*289C>T
ENST00000687740.1:n.3810C>T
ENST00000688151.1:n.2435C>T
ENST00000689271.1:c.972C>T	ENSP00000510797.1:p.Asn324=
ENST00000690900.1:c.*289C>T	ENSP00000510703.1:n.*289C>T
ENST00000692212.1:n.2737C>T
ENST00000692355.1:c.378C>T
ENST00000692413.1:c.1107C>T	ENSP00000509374.1:p.Asn369=
ENST00000692825.1:c.1193C>T	ENSP00000509447.1:n.1193C>T
ENST00000693308.1:c.1173C>T	ENSP00000509770.1:p.Asn391=
ENST00000693763.1:n.2285C>T
ENST00000245407.8:c.1125C>T MANE Select	ENSP00000245407.3:p.Asn375=
ENST00000245407.7:c.1125C>T	ENSP00000245407.3:p.Asn375=
ENST00000435065.6:c.1197C>T	ENSP00000402760.2:p.Asn399=
ENST00000447841.5:c.112-1671C>T
ENST00000448810.5:c.401-14C>T
ENST00000461013.5:n.8547C>T
ENST00000475308.1:n.1803C>T
ENST00000479605.5:n.228C>T
NM_001308122.1:c.1197C>T	NP_001295051.1:p.Asn399=
NM_003060.3:c.1125C>T	NP_003051.1:p.Asn375=
XM_011543590.1:c.507C>T	XP_011541892.1:p.Asn169=
XR_427718.1:n.1485C>T
XR_948290.1:n.1394-1671C>T
XR_948291.1:n.1479C>T
XM_011543590.2:c.507C>T	XP_011541892.1:p.Asn169=
XM_017009778.2:c.597C>T	XP_016865267.1:p.Asn199=
XR_001742215.1:n.1394-14C>T
XR_001742216.1:n.1413-14C>T
XR_427718.2:n.1485C>T
XR_948290.2:n.1394-1671C>T
XR_948291.2:n.1479C>T
NM_003060.4:c.1125C>T MANE Select	NP_003051.1:p.Asn375=
NM_001308122.2:c.1197C>T	NP_001295051.1:p.Asn399=