Canonical Allele Identifier: CA1586303633

Gene: SLC23A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379711C= , CM000667.2:g.139379711C=	GRCh38
NC_000005.9:g.138715400C= , CM000667.1:g.138715400C=	GRCh37
NC_000005.8:g.138743299C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.892G= MANE Select	ENSP00000302701.4:p.Ala298=
ENST00000348729.7:c.892G=	ENSP00000302701.4:p.Ala298=
ENST00000353963.7:c.904G=	ENSP00000302851.5:p.Ala302=
ENST00000504513.1:c.164+245G=
ENST00000506512.1:n.503G=
NM_005847.4:c.892G=	NP_005838.3:p.Ala298=
NM_152685.3:c.904G=	NP_689898.2:p.Ala302=
XM_005272148.3:c.1012G=	XP_005272205.3:p.Ala338=
XM_005272149.3:c.1000G=	XP_005272206.3:p.Ala334=
XM_006714741.2:c.1012G=	XP_006714804.2:p.Ala338=
XM_011543765.1:c.1012G=	XP_011542067.1:p.Ala338=
XM_011543766.1:c.793G=	XP_011542068.1:p.Ala265=
XM_011543767.1:c.697G=	XP_011542069.1:p.Ala233=
XM_011543768.1:c.577G=	XP_011542070.1:p.Ala193=
XM_011543769.1:c.187G=	XP_011542071.1:p.Ala63=
XM_005272149.4:c.1000G=	XP_005272206.3:p.Ala334=
XM_011543765.2:c.1012G=	XP_011542067.1:p.Ala338=
NM_005847.5:c.892G= MANE Select	NP_005838.3:p.Ala298=
NM_152685.4:c.904G=	NP_689898.2:p.Ala302=