Canonical Allele Identifier: CA361139439

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715381C>A (hg19) ; chr5:g.139379692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379692C>A , CM000667.2:g.139379692C>A	GRCh38
NC_000005.9:g.138715381C>A , CM000667.1:g.138715381C>A	GRCh37
NC_000005.8:g.138743280C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.911G>T MANE Select	ENSP00000302701.4:p.Arg304Leu
ENST00000348729.7:c.911G>T	ENSP00000302701.4:p.Arg304Leu
ENST00000353963.7:c.923G>T	ENSP00000302851.5:p.Arg308Leu
ENST00000504513.1:c.164+264G>T
ENST00000506512.1:n.522G>T
NM_005847.4:c.911G>T	NP_005838.3:p.Arg304Leu
NM_152685.3:c.923G>T	NP_689898.2:p.Arg308Leu
XM_005272148.3:c.1031G>T	XP_005272205.3:p.Arg344Leu
XM_005272149.3:c.1019G>T	XP_005272206.3:p.Arg340Leu
XM_006714741.2:c.1031G>T	XP_006714804.2:p.Arg344Leu
XM_011543765.1:c.1031G>T	XP_011542067.1:p.Arg344Leu
XM_011543766.1:c.812G>T	XP_011542068.1:p.Arg271Leu
XM_011543767.1:c.716G>T	XP_011542069.1:p.Arg239Leu
XM_011543768.1:c.596G>T	XP_011542070.1:p.Arg199Leu
XM_011543769.1:c.206G>T	XP_011542071.1:p.Arg69Leu
XM_005272149.4:c.1019G>T	XP_005272206.3:p.Arg340Leu
XM_011543765.2:c.1031G>T	XP_011542067.1:p.Arg344Leu
NM_005847.5:c.911G>T MANE Select	NP_005838.3:p.Arg304Leu
NM_152685.4:c.923G>T	NP_689898.2:p.Arg308Leu