Canonical Allele Identifier: CA3404096

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 642526
• ClinVar RCV Id: RCV000796006
• dbSNP Id: rs371219688
• ExAC: 5:131726528 G / A
• gnomAD v2: 5-131726528-G-A
• gnomAD v3: 5-132390836-G-A
• gnomAD v4: 5-132390836-G-A
• COSMIC: COSM3850040 ; COSM3850041
• MyVariant Identifiers: chr5:g.131726528G>A (hg19) ; chr5:g.132390836G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390836G>A , CM000667.2:g.132390836G>A	GRCh38
NC_000005.9:g.131726528G>A , CM000667.1:g.131726528G>A	GRCh37
NC_000005.8:g.131754427G>A	NCBI36
NG_008982.1:g.26128G>A
NG_008982.2:g.26133G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1040G>A	ENSP00000388838.2:p.Arg347His
ENST00000435065.7:c.1271G>A	ENSP00000402760.2:p.Arg424His
ENST00000448810.6:c.*51G>A	ENSP00000401860.2:n.*51G>A
ENST00000685543.1:n.1340G>A
ENST00000686757.1:c.*363G>A	ENSP00000510721.1:n.*363G>A
ENST00000687740.1:n.3884G>A
ENST00000688151.1:n.2509G>A
ENST00000689271.1:c.1046G>A	ENSP00000510797.1:p.Arg349His
ENST00000690900.1:c.*363G>A	ENSP00000510703.1:n.*363G>A
ENST00000692212.1:n.2811G>A
ENST00000692355.1:c.452G>A
ENST00000692413.1:c.1181G>A	ENSP00000509374.1:p.Arg394His
ENST00000692825.1:c.1267G>A	ENSP00000509447.1:n.1267G>A
ENST00000693308.1:c.1247G>A	ENSP00000509770.1:p.Arg416His
ENST00000693763.1:n.2359G>A
ENST00000245407.8:c.1199G>A MANE Select	ENSP00000245407.3:p.Arg400His
ENST00000245407.7:c.1199G>A	ENSP00000245407.3:p.Arg400His
ENST00000435065.6:c.1271G>A	ENSP00000402760.2:p.Arg424His
ENST00000447841.5:c.112-1597G>A
ENST00000448810.5:c.461G>A
ENST00000461013.5:n.8621G>A
ENST00000475308.1:n.1877G>A
ENST00000479605.5:n.302G>A
NM_001308122.1:c.1271G>A	NP_001295051.1:p.Arg424His
NM_003060.3:c.1199G>A	NP_003051.1:p.Arg400His
XM_011543590.1:c.581G>A	XP_011541892.1:p.Arg194His
XR_427718.1:n.1559G>A
XR_948290.1:n.1394-1597G>A
XR_948291.1:n.1553G>A
XM_011543590.2:c.581G>A	XP_011541892.1:p.Arg194His
XM_017009778.2:c.671G>A	XP_016865267.1:p.Arg224His
XR_001742215.1:n.1454G>A
XR_001742216.1:n.1473G>A
XR_427718.2:n.1559G>A
XR_948290.2:n.1394-1597G>A
XR_948291.2:n.1553G>A
NM_003060.4:c.1199G>A MANE Select	NP_003051.1:p.Arg400His
NM_001308122.2:c.1271G>A	NP_001295051.1:p.Arg424His