Canonical Allele Identifier: CA360808654

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728188C>A (hg19) ; chr5:g.132392496C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392496C>A , CM000667.2:g.132392496C>A	GRCh38
NC_000005.9:g.131728188C>A , CM000667.1:g.131728188C>A	GRCh37
NC_000005.8:g.131756087C>A	NCBI36
NG_008982.1:g.27788C>A
NG_008982.2:g.27793C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1172C>A	ENSP00000388838.2:p.Ser391Tyr
ENST00000435065.7:c.1403C>A	ENSP00000402760.2:p.Ser468Tyr
ENST00000448810.6:c.*183C>A	ENSP00000401860.2:n.*183C>A
ENST00000685543.1:n.1472C>A
ENST00000686757.1:c.*495C>A	ENSP00000510721.1:n.*495C>A
ENST00000687740.1:n.4016C>A
ENST00000688151.1:n.2641C>A
ENST00000689271.1:c.1178C>A	ENSP00000510797.1:p.Ser393Tyr
ENST00000690900.1:c.*495C>A	ENSP00000510703.1:n.*495C>A
ENST00000692212.1:n.4471C>A
ENST00000692355.1:c.584C>A
ENST00000692413.1:c.1313C>A	ENSP00000509374.1:p.Ser438Tyr
ENST00000692825.1:c.1399C>A	ENSP00000509447.1:n.1399C>A
ENST00000693308.1:c.1379C>A	ENSP00000509770.1:p.Ser460Tyr
ENST00000693763.1:n.2491C>A
ENST00000245407.8:c.1331C>A MANE Select	ENSP00000245407.3:p.Ser444Tyr
ENST00000245407.7:c.1331C>A	ENSP00000245407.3:p.Ser444Tyr
ENST00000435065.6:c.1403C>A	ENSP00000402760.2:p.Ser468Tyr
ENST00000447841.5:c.175C>A
ENST00000448810.5:c.593C>A
ENST00000461013.5:n.8753C>A
ENST00000475308.1:n.2009C>A
ENST00000479605.5:n.434C>A
NM_001308122.1:c.1403C>A	NP_001295051.1:p.Ser468Tyr
NM_003060.3:c.1331C>A	NP_003051.1:p.Ser444Tyr
XM_011543590.1:c.713C>A	XP_011541892.1:p.Ser238Tyr
XR_948290.1:n.1457C>A
XM_011543590.2:c.713C>A	XP_011541892.1:p.Ser238Tyr
XM_017009778.2:c.803C>A	XP_016865267.1:p.Ser268Tyr
XR_001742215.1:n.1586C>A
XR_001742216.1:n.1605C>A
XR_427718.2:n.1691C>A
XR_948290.2:n.1457C>A
XR_948291.2:n.1685C>A
NM_003060.4:c.1331C>A MANE Select	NP_003051.1:p.Ser444Tyr
NM_001308122.2:c.1403C>A	NP_001295051.1:p.Ser468Tyr