Canonical Allele Identifier: CA361139990

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715499A>T (hg19) ; chr5:g.139379810A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379810A>T , CM000667.2:g.139379810A>T	GRCh38
NC_000005.9:g.138715499A>T , CM000667.1:g.138715499A>T	GRCh37
NC_000005.8:g.138743398A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.793T>A MANE Select	ENSP00000302701.4:p.Trp265Arg
ENST00000348729.7:c.793T>A	ENSP00000302701.4:p.Trp265Arg
ENST00000353963.7:c.805T>A	ENSP00000302851.5:p.Trp269Arg
ENST00000504513.1:c.164+146T>A
ENST00000506512.1:n.404T>A
NM_005847.4:c.793T>A	NP_005838.3:p.Trp265Arg
NM_152685.3:c.805T>A	NP_689898.2:p.Trp269Arg
XM_005272148.3:c.913T>A	XP_005272205.3:p.Trp305Arg
XM_005272149.3:c.901T>A	XP_005272206.3:p.Trp301Arg
XM_006714741.2:c.913T>A	XP_006714804.2:p.Trp305Arg
XM_011543765.1:c.913T>A	XP_011542067.1:p.Trp305Arg
XM_011543766.1:c.694T>A	XP_011542068.1:p.Trp232Arg
XM_011543767.1:c.598T>A	XP_011542069.1:p.Trp200Arg
XM_011543768.1:c.478T>A	XP_011542070.1:p.Trp160Arg
XM_011543769.1:c.88T>A	XP_011542071.1:p.Trp30Arg
XM_005272149.4:c.901T>A	XP_005272206.3:p.Trp301Arg
XM_011543765.2:c.913T>A	XP_011542067.1:p.Trp305Arg
NM_005847.5:c.793T>A MANE Select	NP_005838.3:p.Trp265Arg
NM_152685.4:c.805T>A	NP_689898.2:p.Trp269Arg