Canonical Allele Identifier: CA360808658

Gene: SLC22A5

Linked Data

• dbSNP Id: rs759393311
• MyVariant Identifiers: chr5:g.131728188C>T (hg19) ; chr5:g.132392496C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1172C>T	ENSP00000388838.2:p.Ser391Phe
ENST00000435065.7:c.1403C>T	ENSP00000402760.2:p.Ser468Phe
ENST00000448810.6:c.*183C>T	ENSP00000401860.2:n.*183C>T
ENST00000685543.1:n.1472C>T
ENST00000686757.1:c.*495C>T	ENSP00000510721.1:n.*495C>T
ENST00000687740.1:n.4016C>T
ENST00000688151.1:n.2641C>T
ENST00000689271.1:c.1178C>T	ENSP00000510797.1:p.Ser393Phe
ENST00000690900.1:c.*495C>T	ENSP00000510703.1:n.*495C>T
ENST00000692212.1:n.4471C>T
ENST00000692355.1:c.584C>T
ENST00000692413.1:c.1313C>T	ENSP00000509374.1:p.Ser438Phe
ENST00000692825.1:c.1399C>T	ENSP00000509447.1:n.1399C>T
ENST00000693308.1:c.1379C>T	ENSP00000509770.1:p.Ser460Phe
ENST00000693763.1:n.2491C>T
ENST00000245407.8:c.1331C>T MANE Select	ENSP00000245407.3:p.Ser444Phe
ENST00000245407.7:c.1331C>T	ENSP00000245407.3:p.Ser444Phe
ENST00000435065.6:c.1403C>T	ENSP00000402760.2:p.Ser468Phe
ENST00000447841.5:c.175C>T
ENST00000448810.5:c.593C>T
ENST00000461013.5:n.8753C>T
ENST00000475308.1:n.2009C>T
ENST00000479605.5:n.434C>T
NM_001308122.1:c.1403C>T	NP_001295051.1:p.Ser468Phe
NM_003060.3:c.1331C>T	NP_003051.1:p.Ser444Phe
XM_011543590.1:c.713C>T	XP_011541892.1:p.Ser238Phe
XR_948290.1:n.1457C>T
XM_011543590.2:c.713C>T	XP_011541892.1:p.Ser238Phe
XM_017009778.2:c.803C>T	XP_016865267.1:p.Ser268Phe
XR_001742215.1:n.1586C>T
XR_001742216.1:n.1605C>T
XR_427718.2:n.1691C>T
XR_948290.2:n.1457C>T
XR_948291.2:n.1685C>T
NM_003060.4:c.1331C>T MANE Select	NP_003051.1:p.Ser444Phe
NM_001308122.2:c.1403C>T	NP_001295051.1:p.Ser468Phe