Canonical Allele Identifier: CA360807500

Gene: SLC22A5

Linked Data

• dbSNP Id: rs774528978
• MyVariant Identifiers: chr5:g.131726419G>T (hg19) ; chr5:g.132390727G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390727G>T , CM000667.2:g.132390727G>T	GRCh38
NC_000005.9:g.131726419G>T , CM000667.1:g.131726419G>T	GRCh37
NC_000005.8:g.131754318G>T	NCBI36
NG_008982.1:g.26019G>T
NG_008982.2:g.26024G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.931G>T	ENSP00000388838.2:p.Asp311Tyr
ENST00000435065.7:c.1162G>T	ENSP00000402760.2:p.Asp388Tyr
ENST00000448810.6:c.1053-49G>T	ENSP00000401860.2:n.1053-49G>T
ENST00000685543.1:n.1231G>T
ENST00000686757.1:c.*254G>T	ENSP00000510721.1:n.*254G>T
ENST00000687740.1:n.3775G>T
ENST00000688151.1:n.2400G>T
ENST00000689271.1:c.937G>T	ENSP00000510797.1:p.Asp313Tyr
ENST00000690900.1:c.*254G>T	ENSP00000510703.1:n.*254G>T
ENST00000692212.1:n.2702G>T
ENST00000692355.1:c.343G>T
ENST00000692413.1:c.1072G>T	ENSP00000509374.1:p.Asp358Tyr
ENST00000692825.1:c.1158G>T	ENSP00000509447.1:n.1158G>T
ENST00000693308.1:c.1138G>T	ENSP00000509770.1:p.Asp380Tyr
ENST00000693763.1:n.2250G>T
ENST00000245407.8:c.1090G>T MANE Select	ENSP00000245407.3:p.Asp364Tyr
ENST00000245407.7:c.1090G>T	ENSP00000245407.3:p.Asp364Tyr
ENST00000435065.6:c.1162G>T	ENSP00000402760.2:p.Asp388Tyr
ENST00000447841.5:c.112-1706G>T
ENST00000448810.5:c.401-49G>T
ENST00000461013.5:n.8512G>T
ENST00000475308.1:n.1768G>T
ENST00000479605.5:n.193G>T
NM_001308122.1:c.1162G>T	NP_001295051.1:p.Asp388Tyr
NM_003060.3:c.1090G>T	NP_003051.1:p.Asp364Tyr
XM_011543590.1:c.472G>T	XP_011541892.1:p.Asp158Tyr
XR_427718.1:n.1450G>T
XR_948290.1:n.1394-1706G>T
XR_948291.1:n.1444G>T
XM_011543590.2:c.472G>T	XP_011541892.1:p.Asp158Tyr
XM_017009778.2:c.562G>T	XP_016865267.1:p.Asp188Tyr
XR_001742215.1:n.1394-49G>T
XR_001742216.1:n.1413-49G>T
XR_427718.2:n.1450G>T
XR_948290.2:n.1394-1706G>T
XR_948291.2:n.1444G>T
NM_003060.4:c.1090G>T MANE Select	NP_003051.1:p.Asp364Tyr
NM_001308122.2:c.1162G>T	NP_001295051.1:p.Asp388Tyr