Canonical Allele Identifier: CA360805537

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132387042C>G , CM000667.2:g.132387042C>G	GRCh38
NC_000005.9:g.131722734C>G , CM000667.1:g.131722734C>G	GRCh37
NC_000005.8:g.131750633C>G	NCBI36
NG_008982.1:g.22334C>G
NG_008982.2:g.22339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.683C>G	ENSP00000388838.2:p.Pro228Arg
ENST00000435065.7:c.914C>G	ENSP00000402760.2:p.Pro305Arg
ENST00000448810.6:c.842C>G	ENSP00000401860.2:p.Pro281Arg
ENST00000686757.1:c.*6C>G	ENSP00000510721.1:n.*6C>G
ENST00000687740.1:n.3527C>G
ENST00000688151.1:n.2152C>G
ENST00000689271.1:c.689C>G	ENSP00000510797.1:p.Pro230Arg
ENST00000690900.1:c.*6C>G	ENSP00000510703.1:n.*6C>G
ENST00000692212.1:n.786C>G
ENST00000692355.1:c.205-1879C>G
ENST00000692413.1:c.844-20C>G	ENSP00000509374.1:n.844-20C>G
ENST00000692825.1:c.910C>G	ENSP00000509447.1:n.910C>G
ENST00000693308.1:c.890C>G	ENSP00000509770.1:p.Pro297Arg
ENST00000693763.1:n.2002C>G
ENST00000245407.8:c.842C>G MANE Select	ENSP00000245407.3:p.Pro281Arg
ENST00000245407.7:c.842C>G	ENSP00000245407.3:p.Pro281Arg
ENST00000415928.5:c.611C>G	ENSP00000388838.1:p.Pro204Arg
ENST00000435065.6:c.914C>G	ENSP00000402760.2:p.Pro305Arg
ENST00000437841.6:c.*157C>G	ENSP00000400553.1:n.*157C>G
ENST00000448810.5:c.190C>G
ENST00000461013.5:n.8264C>G
NM_001308122.1:c.914C>G	NP_001295051.1:p.Pro305Arg
NM_003060.3:c.842C>G	NP_003051.1:p.Pro281Arg
XM_011543590.1:c.224C>G	XP_011541892.1:p.Pro75Arg
XR_427718.1:n.1202C>G
XR_948290.1:n.1183C>G
XR_948291.1:n.1196C>G
XM_011543590.2:c.224C>G	XP_011541892.1:p.Pro75Arg
XM_017009778.2:c.314C>G	XP_016865267.1:p.Pro105Arg
XR_001742215.1:n.1183C>G
XR_001742216.1:n.1202C>G
XR_427718.2:n.1202C>G
XR_948290.2:n.1183C>G
XR_948291.2:n.1196C>G
NM_003060.4:c.842C>G MANE Select	NP_003051.1:p.Pro281Arg
NM_001308122.2:c.914C>G	NP_001295051.1:p.Pro305Arg