Canonical Allele Identifier: CA2675203897

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 3018198
• ClinVar RCV Id: RCV003876861
• gnomAD v4: 5-132390674-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390674C>A , CM000667.2:g.132390674C>A	GRCh38
NC_000005.9:g.131726366C>A , CM000667.1:g.131726366C>A	GRCh37
NC_000005.8:g.131754265C>A	NCBI36
NG_008982.1:g.25966C>A
NG_008982.2:g.25971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.894-16C>A	ENSP00000388838.2:n.894-16C>A
ENST00000435065.7:c.1125-16C>A	ENSP00000402760.2:n.1125-16C>A
ENST00000448810.6:c.1053-102C>A	ENSP00000401860.2:n.1053-102C>A
ENST00000685543.1:n.1194-16C>A
ENST00000686757.1:c.*217-16C>A	ENSP00000510721.1:n.*217-16C>A
ENST00000687740.1:n.3738-16C>A
ENST00000688151.1:n.2363-16C>A
ENST00000689271.1:c.900-16C>A	ENSP00000510797.1:n.900-16C>A
ENST00000690900.1:c.*217-16C>A	ENSP00000510703.1:n.*217-16C>A
ENST00000692212.1:n.2649C>A
ENST00000692355.1:c.306-16C>A
ENST00000692413.1:c.1035-16C>A	ENSP00000509374.1:n.1035-16C>A
ENST00000692825.1:c.1121-16C>A	ENSP00000509447.1:n.1121-16C>A
ENST00000693308.1:c.1101-16C>A	ENSP00000509770.1:n.1101-16C>A
ENST00000693763.1:n.2213-16C>A
ENST00000245407.8:c.1053-16C>A MANE Select	ENSP00000245407.3:n.1053-16C>A
ENST00000245407.7:c.1053-16C>A	ENSP00000245407.3:n.1053-16C>A
ENST00000435065.6:c.1125-16C>A	ENSP00000402760.2:n.1125-16C>A
ENST00000447841.5:c.111+1653C>A
ENST00000448810.5:c.401-102C>A
ENST00000461013.5:n.8475-16C>A
ENST00000475308.1:n.1715C>A
ENST00000479605.5:n.156-16C>A
NM_001308122.1:c.1125-16C>A	NP_001295051.1:n.1125-16C>A
NM_003060.3:c.1053-16C>A	NP_003051.1:n.1053-16C>A
XM_011543590.1:c.435-16C>A	XP_011541892.1:n.435-16C>A
XR_427718.1:n.1413-16C>A
XR_948290.1:n.1393+1653C>A
XR_948291.1:n.1407-16C>A
XM_011543590.2:c.435-16C>A	XP_011541892.1:n.435-16C>A
XM_017009778.2:c.525-16C>A	XP_016865267.1:n.525-16C>A
XR_001742215.1:n.1394-102C>A
XR_001742216.1:n.1413-102C>A
XR_427718.2:n.1413-16C>A
XR_948290.2:n.1393+1653C>A
XR_948291.2:n.1407-16C>A
NM_003060.4:c.1053-16C>A MANE Select	NP_003051.1:n.1053-16C>A
NM_001308122.2:c.1125-16C>A	NP_001295051.1:n.1125-16C>A