Canonical Allele Identifier: CA361140068

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715511T>G (hg19) ; chr5:g.139379822T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379822T>G , CM000667.2:g.139379822T>G	GRCh38
NC_000005.9:g.138715511T>G , CM000667.1:g.138715511T>G	GRCh37
NC_000005.8:g.138743410T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000348729.8:c.781A>C MANE Select	ENSP00000302701.4:p.Ile261Leu
ENST00000348729.7:c.781A>C	ENSP00000302701.4:p.Ile261Leu
ENST00000353963.7:c.793A>C	ENSP00000302851.5:p.Ile265Leu
ENST00000504513.1:c.164+134A>C
ENST00000506512.1:n.392A>C
NM_005847.4:c.781A>C	NP_005838.3:p.Ile261Leu
NM_152685.3:c.793A>C	NP_689898.2:p.Ile265Leu
XM_005272148.3:c.901A>C	XP_005272205.3:p.Ile301Leu
XM_005272149.3:c.889A>C	XP_005272206.3:p.Ile297Leu
XM_006714741.2:c.901A>C	XP_006714804.2:p.Ile301Leu
XM_011543765.1:c.901A>C	XP_011542067.1:p.Ile301Leu
XM_011543766.1:c.682A>C	XP_011542068.1:p.Ile228Leu
XM_011543767.1:c.586A>C	XP_011542069.1:p.Ile196Leu
XM_011543768.1:c.466A>C	XP_011542070.1:p.Ile156Leu
XM_011543769.1:c.76A>C	XP_011542071.1:p.Ile26Leu
XM_005272149.4:c.889A>C	XP_005272206.3:p.Ile297Leu
XM_011543765.2:c.901A>C	XP_011542067.1:p.Ile301Leu
NM_005847.5:c.781A>C MANE Select	NP_005838.3:p.Ile261Leu
NM_152685.4:c.793A>C	NP_689898.2:p.Ile265Leu