Canonical Allele Identifier: CA1586303648

Gene: SLC23A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379716A= , CM000667.2:g.139379716A=	GRCh38
NC_000005.9:g.138715405A= , CM000667.1:g.138715405A=	GRCh37
NC_000005.8:g.138743304A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.887T= MANE Select	ENSP00000302701.4:p.Ile296=
ENST00000348729.7:c.887T=	ENSP00000302701.4:p.Ile296=
ENST00000353963.7:c.899T=	ENSP00000302851.5:p.Ile300=
ENST00000504513.1:c.164+240T=
ENST00000506512.1:n.498T=
NM_005847.4:c.887T=	NP_005838.3:p.Ile296=
NM_152685.3:c.899T=	NP_689898.2:p.Ile300=
XM_005272148.3:c.1007T=	XP_005272205.3:p.Ile336=
XM_005272149.3:c.995T=	XP_005272206.3:p.Ile332=
XM_006714741.2:c.1007T=	XP_006714804.2:p.Ile336=
XM_011543765.1:c.1007T=	XP_011542067.1:p.Ile336=
XM_011543766.1:c.788T=	XP_011542068.1:p.Ile263=
XM_011543767.1:c.692T=	XP_011542069.1:p.Ile231=
XM_011543768.1:c.572T=	XP_011542070.1:p.Ile191=
XM_011543769.1:c.182T=	XP_011542071.1:p.Ile61=
XM_005272149.4:c.995T=	XP_005272206.3:p.Ile332=
XM_011543765.2:c.1007T=	XP_011542067.1:p.Ile336=
NM_005847.5:c.887T= MANE Select	NP_005838.3:p.Ile296=
NM_152685.4:c.899T=	NP_689898.2:p.Ile300=