Canonical Allele Identifier: CA360807825

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726576T>A (hg19) ; chr5:g.132390884T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390884T>A , CM000667.2:g.132390884T>A	GRCh38
NC_000005.9:g.131726576T>A , CM000667.1:g.131726576T>A	GRCh37
NC_000005.8:g.131754475T>A	NCBI36
NG_008982.1:g.26176T>A
NG_008982.2:g.26181T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1088T>A	ENSP00000388838.2:p.Phe363Tyr
ENST00000435065.7:c.1319T>A	ENSP00000402760.2:p.Phe440Tyr
ENST00000448810.6:c.*99T>A	ENSP00000401860.2:n.*99T>A
ENST00000685543.1:n.1388T>A
ENST00000686757.1:c.*411T>A	ENSP00000510721.1:n.*411T>A
ENST00000687740.1:n.3932T>A
ENST00000688151.1:n.2557T>A
ENST00000689271.1:c.1094T>A	ENSP00000510797.1:p.Phe365Tyr
ENST00000690900.1:c.*411T>A	ENSP00000510703.1:n.*411T>A
ENST00000692212.1:n.2859T>A
ENST00000692355.1:c.500T>A
ENST00000692413.1:c.1229T>A	ENSP00000509374.1:p.Phe410Tyr
ENST00000692825.1:c.1315T>A	ENSP00000509447.1:n.1315T>A
ENST00000693308.1:c.1295T>A	ENSP00000509770.1:p.Phe432Tyr
ENST00000693763.1:n.2407T>A
ENST00000245407.8:c.1247T>A MANE Select	ENSP00000245407.3:p.Phe416Tyr
ENST00000245407.7:c.1247T>A	ENSP00000245407.3:p.Phe416Tyr
ENST00000435065.6:c.1319T>A	ENSP00000402760.2:p.Phe440Tyr
ENST00000447841.5:c.112-1549T>A
ENST00000448810.5:c.509T>A
ENST00000461013.5:n.8669T>A
ENST00000475308.1:n.1925T>A
ENST00000479605.5:n.350T>A
NM_001308122.1:c.1319T>A	NP_001295051.1:p.Phe440Tyr
NM_003060.3:c.1247T>A	NP_003051.1:p.Phe416Tyr
XM_011543590.1:c.629T>A	XP_011541892.1:p.Phe210Tyr
XR_427718.1:n.1607T>A
XR_948290.1:n.1394-1549T>A
XR_948291.1:n.1601T>A
XM_011543590.2:c.629T>A	XP_011541892.1:p.Phe210Tyr
XM_017009778.2:c.719T>A	XP_016865267.1:p.Phe240Tyr
XR_001742215.1:n.1502T>A
XR_001742216.1:n.1521T>A
XR_427718.2:n.1607T>A
XR_948290.2:n.1394-1549T>A
XR_948291.2:n.1601T>A
NM_003060.4:c.1247T>A MANE Select	NP_003051.1:p.Phe416Tyr
NM_001308122.2:c.1319T>A	NP_001295051.1:p.Phe440Tyr