Canonical Allele Identifier: CA360809214

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392576C>A , CM000667.2:g.132392576C>A	GRCh38
NC_000005.9:g.131728268C>A , CM000667.1:g.131728268C>A	GRCh37
NC_000005.8:g.131756167C>A	NCBI36
NG_008982.1:g.27868C>A
NG_008982.2:g.27873C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1252C>A	ENSP00000388838.2:p.Arg418Ser
ENST00000435065.7:c.1483C>A	ENSP00000402760.2:p.Arg495Ser
ENST00000448810.6:c.*263C>A	ENSP00000401860.2:n.*263C>A
ENST00000685543.1:n.1552C>A
ENST00000686757.1:c.*575C>A	ENSP00000510721.1:n.*575C>A
ENST00000687740.1:n.4096C>A
ENST00000688151.1:n.2721C>A
ENST00000689271.1:c.1258C>A	ENSP00000510797.1:p.Arg420Ser
ENST00000690900.1:c.*575C>A	ENSP00000510703.1:n.*575C>A
ENST00000692212.1:n.4551C>A
ENST00000692355.1:c.664C>A
ENST00000692413.1:c.1393C>A	ENSP00000509374.1:p.Arg465Ser
ENST00000692825.1:c.1479C>A	ENSP00000509447.1:n.1479C>A
ENST00000693308.1:c.1459C>A	ENSP00000509770.1:p.Arg487Ser
ENST00000693763.1:n.2571C>A
ENST00000245407.8:c.1411C>A MANE Select	ENSP00000245407.3:p.Arg471Ser
ENST00000245407.7:c.1411C>A	ENSP00000245407.3:p.Arg471Ser
ENST00000435065.6:c.1483C>A	ENSP00000402760.2:p.Arg495Ser
ENST00000447841.5:c.255C>A
ENST00000448810.5:c.673C>A
ENST00000461013.5:n.8833C>A
ENST00000475308.1:n.2089C>A
ENST00000479605.5:n.514C>A
NM_001308122.1:c.1483C>A	NP_001295051.1:p.Arg495Ser
NM_003060.3:c.1411C>A	NP_003051.1:p.Arg471Ser
XM_011543590.1:c.793C>A	XP_011541892.1:p.Arg265Ser
XR_948290.1:n.1537C>A
XM_011543590.2:c.793C>A	XP_011541892.1:p.Arg265Ser
XM_017009778.2:c.883C>A	XP_016865267.1:p.Arg295Ser
XR_001742215.1:n.1666C>A
XR_001742216.1:n.1685C>A
XR_427718.2:n.1771C>A
XR_948290.2:n.1537C>A
XR_948291.2:n.1765C>A
NM_003060.4:c.1411C>A MANE Select	NP_003051.1:p.Arg471Ser
NM_001308122.2:c.1483C>A	NP_001295051.1:p.Arg495Ser