Canonical Allele Identifier: CA3404082

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 529855
• ClinVar RCV Id: RCV000635356
• dbSNP Id: rs200637508
• ExAC: 5:131726442 C / T
• gnomAD v2: 5-131726442-C-T
• gnomAD v3: 5-132390750-C-T
• gnomAD v4: 5-132390750-C-T
• MyVariant Identifiers: chr5:g.131726442C>T (hg19) ; chr5:g.132390750C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390750C>T , CM000667.2:g.132390750C>T	GRCh38
NC_000005.9:g.131726442C>T , CM000667.1:g.131726442C>T	GRCh37
NC_000005.8:g.131754341C>T	NCBI36
NG_008982.1:g.26042C>T
NG_008982.2:g.26047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.954C>T	ENSP00000388838.2:p.Asp318=
ENST00000435065.7:c.1185C>T	ENSP00000402760.2:p.Asp395=
ENST00000448810.6:c.1053-26C>T	ENSP00000401860.2:n.1053-26C>T
ENST00000685543.1:n.1254C>T
ENST00000686757.1:c.*277C>T	ENSP00000510721.1:n.*277C>T
ENST00000687740.1:n.3798C>T
ENST00000688151.1:n.2423C>T
ENST00000689271.1:c.960C>T	ENSP00000510797.1:p.Asp320=
ENST00000690900.1:c.*277C>T	ENSP00000510703.1:n.*277C>T
ENST00000692212.1:n.2725C>T
ENST00000692355.1:c.366C>T
ENST00000692413.1:c.1095C>T	ENSP00000509374.1:p.Asp365=
ENST00000692825.1:c.1181C>T	ENSP00000509447.1:n.1181C>T
ENST00000693308.1:c.1161C>T	ENSP00000509770.1:p.Asp387=
ENST00000693763.1:n.2273C>T
ENST00000245407.8:c.1113C>T MANE Select	ENSP00000245407.3:p.Asp371=
ENST00000245407.7:c.1113C>T	ENSP00000245407.3:p.Asp371=
ENST00000435065.6:c.1185C>T	ENSP00000402760.2:p.Asp395=
ENST00000447841.5:c.112-1683C>T
ENST00000448810.5:c.401-26C>T
ENST00000461013.5:n.8535C>T
ENST00000475308.1:n.1791C>T
ENST00000479605.5:n.216C>T
NM_001308122.1:c.1185C>T	NP_001295051.1:p.Asp395=
NM_003060.3:c.1113C>T	NP_003051.1:p.Asp371=
XM_011543590.1:c.495C>T	XP_011541892.1:p.Asp165=
XR_427718.1:n.1473C>T
XR_948290.1:n.1394-1683C>T
XR_948291.1:n.1467C>T
XM_011543590.2:c.495C>T	XP_011541892.1:p.Asp165=
XM_017009778.2:c.585C>T	XP_016865267.1:p.Asp195=
XR_001742215.1:n.1394-26C>T
XR_001742216.1:n.1413-26C>T
XR_427718.2:n.1473C>T
XR_948290.2:n.1394-1683C>T
XR_948291.2:n.1467C>T
NM_003060.4:c.1113C>T MANE Select	NP_003051.1:p.Asp371=
NM_001308122.2:c.1185C>T	NP_001295051.1:p.Asp395=