Canonical Allele Identifier: CA1583144799

Gene: SLC22A5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385493T= , CM000667.2:g.132385493T=	GRCh38
NC_000005.9:g.131721185T= , CM000667.1:g.131721185T=	GRCh37
NC_000005.8:g.131749084T=	NCBI36
NG_008982.1:g.20785T=
NG_008982.2:g.20790T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.665+1179T=	ENSP00000388838.2:n.665+1179T=
ENST00000435065.7:c.890T=	ENSP00000402760.2:p.Leu297=
ENST00000448810.6:c.818T=	ENSP00000401860.2:p.Leu273=
ENST00000686757.1:c.837T=	ENSP00000510721.1:p.Thr279=
ENST00000687740.1:n.1978T=
ENST00000688151.1:n.2010T=
ENST00000689271.1:c.671+1173T=	ENSP00000510797.1:n.671+1173T=
ENST00000690900.1:c.789T=	ENSP00000510703.1:p.Thr263=
ENST00000692212.1:n.644T=
ENST00000692355.1:c.204+1192T=
ENST00000692413.1:c.837T=	ENSP00000509374.1:p.Thr279=
ENST00000692825.1:c.886T=	ENSP00000509447.1:n.886T=
ENST00000693308.1:c.831T=	ENSP00000509770.1:p.Thr277=
ENST00000693763.1:n.1978T=
ENST00000245407.8:c.818T= MANE Select	ENSP00000245407.3:p.Leu273=
ENST00000245407.7:c.818T=	ENSP00000245407.3:p.Leu273=
ENST00000415928.5:c.587T=	ENSP00000388838.1:p.Leu196=
ENST00000435065.6:c.890T=	ENSP00000402760.2:p.Leu297=
ENST00000437841.6:c.*133T=	ENSP00000400553.1:n.*133T=
ENST00000448810.5:c.166T=
ENST00000461013.5:n.8240T=
NM_001308122.1:c.890T=	NP_001295051.1:p.Leu297=
NM_003060.3:c.818T=	NP_003051.1:p.Leu273=
XM_011543590.1:c.200T=	XP_011541892.1:p.Leu67=
XR_427718.1:n.1178T=
XR_948290.1:n.1159T=
XR_948291.1:n.1172T=
XM_011543590.2:c.200T=	XP_011541892.1:p.Leu67=
XM_017009778.2:c.290T=	XP_016865267.1:p.Leu97=
XR_001742215.1:n.1159T=
XR_001742216.1:n.1178T=
XR_427718.2:n.1178T=
XR_948290.2:n.1159T=
XR_948291.2:n.1172T=
NM_003060.4:c.818T= MANE Select	NP_003051.1:p.Leu273=
NM_001308122.2:c.890T=	NP_001295051.1:p.Leu297=