Canonical Allele Identifier: CA360805502

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131722719T>A (hg19) ; chr5:g.132387027T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387027T>A , CM000667.2:g.132387027T>A	GRCh38
NC_000005.9:g.131722719T>A , CM000667.1:g.131722719T>A	GRCh37
NC_000005.8:g.131750618T>A	NCBI36
NG_008982.1:g.22319T>A
NG_008982.2:g.22324T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.668T>A	ENSP00000388838.2:p.Phe223Tyr
ENST00000435065.7:c.899T>A	ENSP00000402760.2:p.Phe300Tyr
ENST00000448810.6:c.827T>A	ENSP00000401860.2:p.Phe276Tyr
ENST00000686757.1:c.846T>A	ENSP00000510721.1:p.Val282=
ENST00000687740.1:n.3512T>A
ENST00000688151.1:n.2137T>A
ENST00000689271.1:c.674T>A	ENSP00000510797.1:p.Phe225Tyr
ENST00000690900.1:c.798T>A	ENSP00000510703.1:p.Val266=
ENST00000692212.1:n.771T>A
ENST00000692355.1:c.205-1894T>A
ENST00000692413.1:c.844-35T>A	ENSP00000509374.1:n.844-35T>A
ENST00000692825.1:c.895T>A	ENSP00000509447.1:n.895T>A
ENST00000693308.1:c.875T>A	ENSP00000509770.1:p.Phe292Tyr
ENST00000693763.1:n.1987T>A
ENST00000245407.8:c.827T>A MANE Select	ENSP00000245407.3:p.Phe276Tyr
ENST00000245407.7:c.827T>A	ENSP00000245407.3:p.Phe276Tyr
ENST00000415928.5:c.596T>A	ENSP00000388838.1:p.Phe199Tyr
ENST00000435065.6:c.899T>A	ENSP00000402760.2:p.Phe300Tyr
ENST00000437841.6:c.*142T>A	ENSP00000400553.1:n.*142T>A
ENST00000448810.5:c.175T>A
ENST00000461013.5:n.8249T>A
NM_001308122.1:c.899T>A	NP_001295051.1:p.Phe300Tyr
NM_003060.3:c.827T>A	NP_003051.1:p.Phe276Tyr
XM_011543590.1:c.209T>A	XP_011541892.1:p.Phe70Tyr
XR_427718.1:n.1187T>A
XR_948290.1:n.1168T>A
XR_948291.1:n.1181T>A
XM_011543590.2:c.209T>A	XP_011541892.1:p.Phe70Tyr
XM_017009778.2:c.299T>A	XP_016865267.1:p.Phe100Tyr
XR_001742215.1:n.1168T>A
XR_001742216.1:n.1187T>A
XR_427718.2:n.1187T>A
XR_948290.2:n.1168T>A
XR_948291.2:n.1181T>A
NM_003060.4:c.827T>A MANE Select	NP_003051.1:p.Phe276Tyr
NM_001308122.2:c.899T>A	NP_001295051.1:p.Phe300Tyr