Canonical Allele Identifier: CA360809048

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392549G>A , CM000667.2:g.132392549G>A	GRCh38
NC_000005.9:g.131728241G>A , CM000667.1:g.131728241G>A	GRCh37
NC_000005.8:g.131756140G>A	NCBI36
NG_008982.1:g.27841G>A
NG_008982.2:g.27846G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003060.4:c.1384G>A MANE Select	NP_003051.1:p.Gly462Ser
ENST00000245407.8:c.1384G>A MANE Select	ENSP00000245407.3:p.Gly462Ser
NM_001308122.1:c.1456G>A	NP_001295051.1:p.Gly486Ser
NM_001308122.2:c.1456G>A	NP_001295051.1:p.Gly486Ser
NM_003060.3:c.1384G>A	NP_003051.1:p.Gly462Ser
ENST00000245407.7:c.1384G>A	ENSP00000245407.3:p.Gly462Ser
ENST00000415928.6:c.1225G>A	ENSP00000388838.2:p.Gly409Ser
ENST00000435065.6:c.1456G>A	ENSP00000402760.2:p.Gly486Ser
ENST00000435065.7:c.1456G>A	ENSP00000402760.2:p.Gly486Ser
ENST00000447841.5:c.228G>A
ENST00000448810.5:c.646G>A
ENST00000448810.6:c.*236G>A	ENSP00000401860.2:n.*236G>A
ENST00000461013.5:n.8806G>A
ENST00000475308.1:n.2062G>A
ENST00000479605.5:n.487G>A
ENST00000685543.1:n.1525G>A
ENST00000686757.1:c.*548G>A	ENSP00000510721.1:n.*548G>A
ENST00000687740.1:n.4069G>A
ENST00000688151.1:n.2694G>A
ENST00000689271.1:c.1231G>A	ENSP00000510797.1:p.Gly411Ser
ENST00000690900.1:c.*548G>A	ENSP00000510703.1:n.*548G>A
ENST00000692212.1:n.4524G>A
ENST00000692355.1:c.637G>A
ENST00000692413.1:c.1366G>A	ENSP00000509374.1:p.Gly456Ser
ENST00000692825.1:c.1452G>A	ENSP00000509447.1:n.1452G>A
ENST00000693308.1:c.1432G>A	ENSP00000509770.1:p.Gly478Ser
ENST00000693763.1:n.2544G>A
XM_011543590.1:c.766G>A	XP_011541892.1:p.Gly256Ser
XM_011543590.2:c.766G>A	XP_011541892.1:p.Gly256Ser
XM_017009778.2:c.856G>A	XP_016865267.1:p.Gly286Ser
XR_001742215.1:n.1639G>A
XR_001742216.1:n.1658G>A
XR_427718.2:n.1744G>A
XR_948290.1:n.1510G>A
XR_948290.2:n.1510G>A
XR_948291.2:n.1738G>A