Canonical Allele Identifier: CA2578402170

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392387C>A , CM000667.2:g.132392387C>A	GRCh38
NC_000005.9:g.131728079C>A , CM000667.1:g.131728079C>A	GRCh37
NC_000005.8:g.131755978C>A	NCBI36
NG_008982.1:g.27679C>A
NG_008982.2:g.27684C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1109-46C>A	ENSP00000388838.2:n.1109-46C>A
ENST00000435065.7:c.1340-46C>A	ENSP00000402760.2:n.1340-46C>A
ENST00000448810.6:c.*120-46C>A	ENSP00000401860.2:n.*120-46C>A
ENST00000685543.1:n.1409-46C>A
ENST00000686757.1:c.*432-46C>A	ENSP00000510721.1:n.*432-46C>A
ENST00000687740.1:n.3953-46C>A
ENST00000688151.1:n.2578-46C>A
ENST00000689271.1:c.1115-46C>A	ENSP00000510797.1:n.1115-46C>A
ENST00000690900.1:c.*432-46C>A	ENSP00000510703.1:n.*432-46C>A
ENST00000692212.1:n.4362C>A
ENST00000692355.1:c.521-46C>A
ENST00000692413.1:c.1250-46C>A	ENSP00000509374.1:n.1250-46C>A
ENST00000692825.1:c.1336-46C>A	ENSP00000509447.1:n.1336-46C>A
ENST00000693308.1:c.1316-46C>A	ENSP00000509770.1:n.1316-46C>A
ENST00000693763.1:n.2428-46C>A
ENST00000245407.8:c.1268-46C>A MANE Select	ENSP00000245407.3:n.1268-46C>A
ENST00000245407.7:c.1268-46C>A	ENSP00000245407.3:n.1268-46C>A
ENST00000435065.6:c.1340-46C>A	ENSP00000402760.2:n.1340-46C>A
ENST00000447841.5:c.112-46C>A
ENST00000448810.5:c.530-46C>A
ENST00000461013.5:n.8690-46C>A
ENST00000475308.1:n.1946-46C>A
ENST00000479605.5:n.371-46C>A
NM_001308122.1:c.1340-46C>A	NP_001295051.1:n.1340-46C>A
NM_003060.3:c.1268-46C>A	NP_003051.1:n.1268-46C>A
XM_011543590.1:c.650-46C>A	XP_011541892.1:n.650-46C>A
XR_427718.1:n.1628-46C>A
XR_948290.1:n.1394-46C>A
XR_948291.1:n.1622-46C>A
XM_011543590.2:c.650-46C>A	XP_011541892.1:n.650-46C>A
XM_017009778.2:c.740-46C>A	XP_016865267.1:n.740-46C>A
XR_001742215.1:n.1523-46C>A
XR_001742216.1:n.1542-46C>A
XR_427718.2:n.1628-46C>A
XR_948290.2:n.1394-46C>A
XR_948291.2:n.1622-46C>A
NM_003060.4:c.1268-46C>A MANE Select	NP_003051.1:n.1268-46C>A
NM_001308122.2:c.1340-46C>A	NP_001295051.1:n.1340-46C>A