Canonical Allele Identifier: CA360809849

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729440T>A (hg19) ; chr5:g.132393748T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393748T>A , CM000667.2:g.132393748T>A	GRCh38
NC_000005.9:g.131729440T>A , CM000667.1:g.131729440T>A	GRCh37
NC_000005.8:g.131757339T>A	NCBI36
NG_008982.1:g.29040T>A
NG_008982.2:g.29045T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-437T>A	ENSP00000388838.2:n.1292-437T>A
ENST00000435065.7:c.1595T>A	ENSP00000402760.2:p.Phe532Tyr
ENST00000448810.6:c.*375T>A	ENSP00000401860.2:n.*375T>A
ENST00000685543.1:n.1664T>A
ENST00000686757.1:c.*687T>A	ENSP00000510721.1:n.*687T>A
ENST00000686868.1:n.515T>A
ENST00000687740.1:n.4208T>A
ENST00000688151.1:n.2833T>A
ENST00000689271.1:c.1370T>A	ENSP00000510797.1:p.Phe457Tyr
ENST00000690900.1:c.*687T>A	ENSP00000510703.1:n.*687T>A
ENST00000692212.1:n.4663T>A
ENST00000692355.1:c.776T>A
ENST00000692413.1:c.1505T>A	ENSP00000509374.1:p.Phe502Tyr
ENST00000692825.1:c.1591T>A	ENSP00000509447.1:n.1591T>A
ENST00000693308.1:c.1571T>A	ENSP00000509770.1:p.Phe524Tyr
ENST00000693763.1:n.2683T>A
ENST00000245407.8:c.1523T>A MANE Select	ENSP00000245407.3:p.Phe508Tyr
ENST00000245407.7:c.1523T>A	ENSP00000245407.3:p.Phe508Tyr
ENST00000435065.6:c.1595T>A	ENSP00000402760.2:p.Phe532Tyr
ENST00000447841.5:c.367T>A
ENST00000448810.5:c.785T>A
ENST00000461013.5:n.8945T>A
ENST00000475308.1:n.2201T>A
NM_001308122.1:c.1595T>A	NP_001295051.1:p.Phe532Tyr
NM_003060.3:c.1523T>A	NP_003051.1:p.Phe508Tyr
XM_011543590.1:c.905T>A	XP_011541892.1:p.Phe302Tyr
XR_948290.1:n.1649T>A
XM_011543590.2:c.905T>A	XP_011541892.1:p.Phe302Tyr
XM_017009778.2:c.995T>A	XP_016865267.1:p.Phe332Tyr
XR_001742215.1:n.1778T>A
XR_001742216.1:n.1797T>A
XR_427718.2:n.1883T>A
XR_948290.2:n.1649T>A
XR_948291.2:n.1877T>A
NM_003060.4:c.1523T>A MANE Select	NP_003051.1:p.Phe508Tyr
NM_001308122.2:c.1595T>A	NP_001295051.1:p.Phe532Tyr