Canonical Allele Identifier: CA446338315

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1643626
• ClinVar RCV Id: RCV002145910
• dbSNP Id: rs1450996221
• gnomAD v2: 5-131726478-A-G
• gnomAD v4: 5-132390786-A-G
• MyVariant Identifiers: chr5:g.131726478A>G (hg19) ; chr5:g.132390786A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390786A>G , CM000667.2:g.132390786A>G	GRCh38
NC_000005.9:g.131726478A>G , CM000667.1:g.131726478A>G	GRCh37
NC_000005.8:g.131754377A>G	NCBI36
NG_008982.1:g.26078A>G
NG_008982.2:g.26083A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.990A>G	ENSP00000388838.2:p.Glu330=
ENST00000435065.7:c.1221A>G	ENSP00000402760.2:p.Glu407=
ENST00000448810.6:c.*1A>G	ENSP00000401860.2:n.*1A>G
ENST00000685543.1:n.1290A>G
ENST00000686757.1:c.*313A>G	ENSP00000510721.1:n.*313A>G
ENST00000687740.1:n.3834A>G
ENST00000688151.1:n.2459A>G
ENST00000689271.1:c.996A>G	ENSP00000510797.1:p.Glu332=
ENST00000690900.1:c.*313A>G	ENSP00000510703.1:n.*313A>G
ENST00000692212.1:n.2761A>G
ENST00000692355.1:c.402A>G
ENST00000692413.1:c.1131A>G	ENSP00000509374.1:p.Glu377=
ENST00000692825.1:c.1217A>G	ENSP00000509447.1:n.1217A>G
ENST00000693308.1:c.1197A>G	ENSP00000509770.1:p.Glu399=
ENST00000693763.1:n.2309A>G
ENST00000245407.8:c.1149A>G MANE Select	ENSP00000245407.3:p.Glu383=
ENST00000245407.7:c.1149A>G	ENSP00000245407.3:p.Glu383=
ENST00000435065.6:c.1221A>G	ENSP00000402760.2:p.Glu407=
ENST00000447841.5:c.112-1647A>G
ENST00000448810.5:c.411A>G
ENST00000461013.5:n.8571A>G
ENST00000475308.1:n.1827A>G
ENST00000479605.5:n.252A>G
NM_001308122.1:c.1221A>G	NP_001295051.1:p.Glu407=
NM_003060.3:c.1149A>G	NP_003051.1:p.Glu383=
XM_011543590.1:c.531A>G	XP_011541892.1:p.Glu177=
XR_427718.1:n.1509A>G
XR_948290.1:n.1394-1647A>G
XR_948291.1:n.1503A>G
XM_011543590.2:c.531A>G	XP_011541892.1:p.Glu177=
XM_017009778.2:c.621A>G	XP_016865267.1:p.Glu207=
XR_001742215.1:n.1404A>G
XR_001742216.1:n.1423A>G
XR_427718.2:n.1509A>G
XR_948290.2:n.1394-1647A>G
XR_948291.2:n.1503A>G
NM_003060.4:c.1149A>G MANE Select	NP_003051.1:p.Glu383=
NM_001308122.2:c.1221A>G	NP_001295051.1:p.Glu407=