Canonical Allele Identifier: CA360809056

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392550G>A , CM000667.2:g.132392550G>A	GRCh38
NC_000005.9:g.131728242G>A , CM000667.1:g.131728242G>A	GRCh37
NC_000005.8:g.131756141G>A	NCBI36
NG_008982.1:g.27842G>A
NG_008982.2:g.27847G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1385G>A MANE Select	NP_003051.1:p.Gly462Asp
ENST00000245407.8:c.1385G>A MANE Select	ENSP00000245407.3:p.Gly462Asp
NM_001308122.1:c.1457G>A	NP_001295051.1:p.Gly486Asp
NM_001308122.2:c.1457G>A	NP_001295051.1:p.Gly486Asp
NM_003060.3:c.1385G>A	NP_003051.1:p.Gly462Asp
ENST00000245407.7:c.1385G>A	ENSP00000245407.3:p.Gly462Asp
ENST00000415928.6:c.1226G>A	ENSP00000388838.2:p.Gly409Asp
ENST00000435065.6:c.1457G>A	ENSP00000402760.2:p.Gly486Asp
ENST00000435065.7:c.1457G>A	ENSP00000402760.2:p.Gly486Asp
ENST00000447841.5:c.229G>A
ENST00000448810.5:c.647G>A
ENST00000448810.6:c.*237G>A	ENSP00000401860.2:n.*237G>A
ENST00000461013.5:n.8807G>A
ENST00000475308.1:n.2063G>A
ENST00000479605.5:n.488G>A
ENST00000685543.1:n.1526G>A
ENST00000686757.1:c.*549G>A	ENSP00000510721.1:n.*549G>A
ENST00000687740.1:n.4070G>A
ENST00000688151.1:n.2695G>A
ENST00000689271.1:c.1232G>A	ENSP00000510797.1:p.Gly411Asp
ENST00000690900.1:c.*549G>A	ENSP00000510703.1:n.*549G>A
ENST00000692212.1:n.4525G>A
ENST00000692355.1:c.638G>A
ENST00000692413.1:c.1367G>A	ENSP00000509374.1:p.Gly456Asp
ENST00000692825.1:c.1453G>A	ENSP00000509447.1:n.1453G>A
ENST00000693308.1:c.1433G>A	ENSP00000509770.1:p.Gly478Asp
ENST00000693763.1:n.2545G>A
XM_011543590.1:c.767G>A	XP_011541892.1:p.Gly256Asp
XM_011543590.2:c.767G>A	XP_011541892.1:p.Gly256Asp
XM_017009778.2:c.857G>A	XP_016865267.1:p.Gly286Asp
XR_001742215.1:n.1640G>A
XR_001742216.1:n.1659G>A
XR_427718.2:n.1745G>A
XR_948290.1:n.1511G>A
XR_948290.2:n.1511G>A
XR_948291.2:n.1739G>A