Canonical Allele Identifier: CA2499217559

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1142521
• ClinVar RCV Id: RCV001480330
• dbSNP Id: rs2126785864

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387020G>A , CM000667.2:g.132387020G>A	GRCh38
NC_000005.9:g.131722712G>A , CM000667.1:g.131722712G>A	GRCh37
NC_000005.8:g.131750611G>A	NCBI36
NG_008982.1:g.22312G>A
NG_008982.2:g.22317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.666-5G>A	ENSP00000388838.2:n.666-5G>A
ENST00000435065.7:c.897-5G>A	ENSP00000402760.2:n.897-5G>A
ENST00000448810.6:c.825-5G>A	ENSP00000401860.2:n.825-5G>A
ENST00000686757.1:c.844-5G>A	ENSP00000510721.1:n.844-5G>A
ENST00000687740.1:n.3505G>A
ENST00000688151.1:n.2135-5G>A
ENST00000689271.1:c.672-5G>A	ENSP00000510797.1:n.672-5G>A
ENST00000690900.1:c.796-5G>A	ENSP00000510703.1:n.796-5G>A
ENST00000692212.1:n.769-5G>A
ENST00000692355.1:c.205-1901G>A
ENST00000692413.1:c.844-42G>A	ENSP00000509374.1:n.844-42G>A
ENST00000692825.1:c.893-5G>A	ENSP00000509447.1:n.893-5G>A
ENST00000693308.1:c.868G>A	ENSP00000509770.1:p.Ala290Thr
ENST00000693763.1:n.1985-5G>A
ENST00000245407.8:c.825-5G>A MANE Select	ENSP00000245407.3:n.825-5G>A
ENST00000245407.7:c.825-5G>A	ENSP00000245407.3:n.825-5G>A
ENST00000415928.5:c.594-5G>A	ENSP00000388838.1:n.594-5G>A
ENST00000435065.6:c.897-5G>A	ENSP00000402760.2:n.897-5G>A
ENST00000437841.6:c.*140-5G>A	ENSP00000400553.1:n.*140-5G>A
ENST00000448810.5:c.173-5G>A
ENST00000461013.5:n.8247-5G>A
NM_001308122.1:c.897-5G>A	NP_001295051.1:n.897-5G>A
NM_003060.3:c.825-5G>A	NP_003051.1:n.825-5G>A
XM_011543590.1:c.207-5G>A	XP_011541892.1:n.207-5G>A
XR_427718.1:n.1185-5G>A
XR_948290.1:n.1166-5G>A
XR_948291.1:n.1179-5G>A
XM_011543590.2:c.207-5G>A	XP_011541892.1:n.207-5G>A
XM_017009778.2:c.297-5G>A	XP_016865267.1:n.297-5G>A
XR_001742215.1:n.1166-5G>A
XR_001742216.1:n.1185-5G>A
XR_427718.2:n.1185-5G>A
XR_948290.2:n.1166-5G>A
XR_948291.2:n.1179-5G>A
NM_003060.4:c.825-5G>A MANE Select	NP_003051.1:n.825-5G>A
NM_001308122.2:c.897-5G>A	NP_001295051.1:n.897-5G>A