Canonical Allele Identifier: CA360802774

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1424694
• ClinVar RCV Id: RCV001957236
• dbSNP Id: rs1751854895
• MyVariant Identifiers: chr5:g.131705970C>A (hg19) ; chr5:g.132370278C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132370278C>A , CM000667.2:g.132370278C>A	GRCh38
NC_000005.9:g.131705970C>A , CM000667.1:g.131705970C>A	GRCh37
NC_000005.8:g.131733869C>A	NCBI36
NG_008982.1:g.5570C>A
NG_008982.2:g.5575C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.306C>A	ENSP00000388838.2:p.Asp102Glu
ENST00000435065.7:c.306C>A	ENSP00000402760.2:p.Asp102Glu
ENST00000448810.6:c.306C>A	ENSP00000401860.2:p.Asp102Glu
ENST00000686757.1:c.306C>A	ENSP00000510721.1:p.Asp102Glu
ENST00000687740.1:n.440C>A
ENST00000689271.1:c.306C>A	ENSP00000510797.1:p.Asp102Glu
ENST00000690900.1:c.306C>A	ENSP00000510703.1:p.Asp102Glu
ENST00000692413.1:c.306C>A	ENSP00000509374.1:p.Asp102Glu
ENST00000692825.1:c.306C>A	ENSP00000509447.1:p.Asp102Glu
ENST00000693308.1:c.306C>A	ENSP00000509770.1:p.Asp102Glu
ENST00000693763.1:n.440C>A
ENST00000245407.8:c.306C>A MANE Select	ENSP00000245407.3:p.Asp102Glu
ENST00000245407.7:c.306C>A	ENSP00000245407.3:p.Asp102Glu
ENST00000415928.5:c.3C>A	ENSP00000388838.1:p.Asp1Glu
ENST00000435065.6:c.306C>A	ENSP00000402760.2:p.Asp102Glu
ENST00000437841.6:c.306C>A	ENSP00000400553.1:p.Asp102Glu
NM_001308122.1:c.306C>A	NP_001295051.1:p.Asp102Glu
NM_003060.3:c.306C>A	NP_003051.1:p.Asp102Glu
XR_427718.1:n.575C>A
XR_948290.1:n.575C>A
XR_948291.1:n.575C>A
XM_011543590.2:c.-326C>A	XP_011541892.1:n.-326C>A
XR_001742215.1:n.575C>A
XR_001742216.1:n.575C>A
XR_427718.2:n.575C>A
XR_948290.2:n.575C>A
XR_948291.2:n.575C>A
NM_003060.4:c.306C>A MANE Select	NP_003051.1:p.Asp102Glu
NM_001308122.2:c.306C>A	NP_001295051.1:p.Asp102Glu