Canonical Allele Identifier: CA1586303615

Gene: SLC23A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379699A= , CM000667.2:g.139379699A=	GRCh38
NC_000005.9:g.138715388A= , CM000667.1:g.138715388A=	GRCh37
NC_000005.8:g.138743287A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.904T= MANE Select	ENSP00000302701.4:p.Trp302=
ENST00000348729.7:c.904T=	ENSP00000302701.4:p.Trp302=
ENST00000353963.7:c.916T=	ENSP00000302851.5:p.Trp306=
ENST00000504513.1:c.164+257T=
ENST00000506512.1:n.515T=
NM_005847.4:c.904T=	NP_005838.3:p.Trp302=
NM_152685.3:c.916T=	NP_689898.2:p.Trp306=
XM_005272148.3:c.1024T=	XP_005272205.3:p.Trp342=
XM_005272149.3:c.1012T=	XP_005272206.3:p.Trp338=
XM_006714741.2:c.1024T=	XP_006714804.2:p.Trp342=
XM_011543765.1:c.1024T=	XP_011542067.1:p.Trp342=
XM_011543766.1:c.805T=	XP_011542068.1:p.Trp269=
XM_011543767.1:c.709T=	XP_011542069.1:p.Trp237=
XM_011543768.1:c.589T=	XP_011542070.1:p.Trp197=
XM_011543769.1:c.199T=	XP_011542071.1:p.Trp67=
XM_005272149.4:c.1012T=	XP_005272206.3:p.Trp338=
XM_011543765.2:c.1024T=	XP_011542067.1:p.Trp342=
NM_005847.5:c.904T= MANE Select	NP_005838.3:p.Trp302=
NM_152685.4:c.916T=	NP_689898.2:p.Trp306=