Canonical Allele Identifier: CA1586303600

Gene: SLC23A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379689A= , CM000667.2:g.139379689A=	GRCh38
NC_000005.9:g.138715378A= , CM000667.1:g.138715378A=	GRCh37
NC_000005.8:g.138743277A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.914T= MANE Select	ENSP00000302701.4:p.Ile305=
ENST00000348729.7:c.914T=	ENSP00000302701.4:p.Ile305=
ENST00000353963.7:c.926T=	ENSP00000302851.5:p.Ile309=
ENST00000504513.1:c.164+267T=
ENST00000506512.1:n.525T=
NM_005847.4:c.914T=	NP_005838.3:p.Ile305=
NM_152685.3:c.926T=	NP_689898.2:p.Ile309=
XM_005272148.3:c.1034T=	XP_005272205.3:p.Ile345=
XM_005272149.3:c.1022T=	XP_005272206.3:p.Ile341=
XM_006714741.2:c.1034T=	XP_006714804.2:p.Ile345=
XM_011543765.1:c.1034T=	XP_011542067.1:p.Ile345=
XM_011543766.1:c.815T=	XP_011542068.1:p.Ile272=
XM_011543767.1:c.719T=	XP_011542069.1:p.Ile240=
XM_011543768.1:c.599T=	XP_011542070.1:p.Ile200=
XM_011543769.1:c.209T=	XP_011542071.1:p.Ile70=
XM_005272149.4:c.1022T=	XP_005272206.3:p.Ile341=
XM_011543765.2:c.1034T=	XP_011542067.1:p.Ile345=
NM_005847.5:c.914T= MANE Select	NP_005838.3:p.Ile305=
NM_152685.4:c.926T=	NP_689898.2:p.Ile309=