Canonical Allele Identifier: CA360807442

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726402A>T (hg19) ; chr5:g.132390710A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390710A>T , CM000667.2:g.132390710A>T	GRCh38
NC_000005.9:g.131726402A>T , CM000667.1:g.131726402A>T	GRCh37
NC_000005.8:g.131754301A>T	NCBI36
NG_008982.1:g.26002A>T
NG_008982.2:g.26007A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.914A>T	ENSP00000388838.2:p.Tyr305Phe
ENST00000435065.7:c.1145A>T	ENSP00000402760.2:p.Tyr382Phe
ENST00000448810.6:c.1053-66A>T	ENSP00000401860.2:n.1053-66A>T
ENST00000685543.1:n.1214A>T
ENST00000686757.1:c.*237A>T	ENSP00000510721.1:n.*237A>T
ENST00000687740.1:n.3758A>T
ENST00000688151.1:n.2383A>T
ENST00000689271.1:c.920A>T	ENSP00000510797.1:p.Tyr307Phe
ENST00000690900.1:c.*237A>T	ENSP00000510703.1:n.*237A>T
ENST00000692212.1:n.2685A>T
ENST00000692355.1:c.326A>T
ENST00000692413.1:c.1055A>T	ENSP00000509374.1:p.Tyr352Phe
ENST00000692825.1:c.1141A>T	ENSP00000509447.1:n.1141A>T
ENST00000693308.1:c.1121A>T	ENSP00000509770.1:p.Tyr374Phe
ENST00000693763.1:n.2233A>T
ENST00000245407.8:c.1073A>T MANE Select	ENSP00000245407.3:p.Tyr358Phe
ENST00000245407.7:c.1073A>T	ENSP00000245407.3:p.Tyr358Phe
ENST00000435065.6:c.1145A>T	ENSP00000402760.2:p.Tyr382Phe
ENST00000447841.5:c.111+1689A>T
ENST00000448810.5:c.401-66A>T
ENST00000461013.5:n.8495A>T
ENST00000475308.1:n.1751A>T
ENST00000479605.5:n.176A>T
NM_001308122.1:c.1145A>T	NP_001295051.1:p.Tyr382Phe
NM_003060.3:c.1073A>T	NP_003051.1:p.Tyr358Phe
XM_011543590.1:c.455A>T	XP_011541892.1:p.Tyr152Phe
XR_427718.1:n.1433A>T
XR_948290.1:n.1393+1689A>T
XR_948291.1:n.1427A>T
XM_011543590.2:c.455A>T	XP_011541892.1:p.Tyr152Phe
XM_017009778.2:c.545A>T	XP_016865267.1:p.Tyr182Phe
XR_001742215.1:n.1394-66A>T
XR_001742216.1:n.1413-66A>T
XR_427718.2:n.1433A>T
XR_948290.2:n.1393+1689A>T
XR_948291.2:n.1427A>T
NM_003060.4:c.1073A>T MANE Select	NP_003051.1:p.Tyr358Phe
NM_001308122.2:c.1145A>T	NP_001295051.1:p.Tyr382Phe