Canonical Allele Identifier: CA361140062

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715510A>T (hg19) ; chr5:g.139379821A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379821A>T , CM000667.2:g.139379821A>T	GRCh38
NC_000005.9:g.138715510A>T , CM000667.1:g.138715510A>T	GRCh37
NC_000005.8:g.138743409A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.782T>A MANE Select	ENSP00000302701.4:p.Ile261Asn
ENST00000348729.7:c.782T>A	ENSP00000302701.4:p.Ile261Asn
ENST00000353963.7:c.794T>A	ENSP00000302851.5:p.Ile265Asn
ENST00000504513.1:c.164+135T>A
ENST00000506512.1:n.393T>A
NM_005847.4:c.782T>A	NP_005838.3:p.Ile261Asn
NM_152685.3:c.794T>A	NP_689898.2:p.Ile265Asn
XM_005272148.3:c.902T>A	XP_005272205.3:p.Ile301Asn
XM_005272149.3:c.890T>A	XP_005272206.3:p.Ile297Asn
XM_006714741.2:c.902T>A	XP_006714804.2:p.Ile301Asn
XM_011543765.1:c.902T>A	XP_011542067.1:p.Ile301Asn
XM_011543766.1:c.683T>A	XP_011542068.1:p.Ile228Asn
XM_011543767.1:c.587T>A	XP_011542069.1:p.Ile196Asn
XM_011543768.1:c.467T>A	XP_011542070.1:p.Ile156Asn
XM_011543769.1:c.77T>A	XP_011542071.1:p.Ile26Asn
XM_005272149.4:c.890T>A	XP_005272206.3:p.Ile297Asn
XM_011543765.2:c.902T>A	XP_011542067.1:p.Ile301Asn
NM_005847.5:c.782T>A MANE Select	NP_005838.3:p.Ile261Asn
NM_152685.4:c.794T>A	NP_689898.2:p.Ile265Asn