Canonical Allele Identifier: CA1586303606

Gene: SLC23A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379693G= , CM000667.2:g.139379693G=	GRCh38
NC_000005.9:g.138715382G= , CM000667.1:g.138715382G=	GRCh37
NC_000005.8:g.138743281G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.910C= MANE Select	ENSP00000302701.4:p.Arg304=
ENST00000348729.7:c.910C=	ENSP00000302701.4:p.Arg304=
ENST00000353963.7:c.922C=	ENSP00000302851.5:p.Arg308=
ENST00000504513.1:c.164+263C=
ENST00000506512.1:n.521C=
NM_005847.4:c.910C=	NP_005838.3:p.Arg304=
NM_152685.3:c.922C=	NP_689898.2:p.Arg308=
XM_005272148.3:c.1030C=	XP_005272205.3:p.Arg344=
XM_005272149.3:c.1018C=	XP_005272206.3:p.Arg340=
XM_006714741.2:c.1030C=	XP_006714804.2:p.Arg344=
XM_011543765.1:c.1030C=	XP_011542067.1:p.Arg344=
XM_011543766.1:c.811C=	XP_011542068.1:p.Arg271=
XM_011543767.1:c.715C=	XP_011542069.1:p.Arg239=
XM_011543768.1:c.595C=	XP_011542070.1:p.Arg199=
XM_011543769.1:c.205C=	XP_011542071.1:p.Arg69=
XM_005272149.4:c.1018C=	XP_005272206.3:p.Arg340=
XM_011543765.2:c.1030C=	XP_011542067.1:p.Arg344=
NM_005847.5:c.910C= MANE Select	NP_005838.3:p.Arg304=
NM_152685.4:c.922C=	NP_689898.2:p.Arg308=