Canonical Allele Identifier: CA446793942

Gene: SLC23A1

Linked Data

• MyVariant Identifiers: chr5:g.138715413A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139379724A>C , CM000667.2:g.139379724A>C	GRCh38
NC_000005.9:g.138715413A>C , CM000667.1:g.138715413A>C	GRCh37
NC_000005.8:g.138743312A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348729.8:c.879T>G MANE Select	ENSP00000302701.4:p.Arg293=
ENST00000348729.7:c.879T>G	ENSP00000302701.4:p.Arg293=
ENST00000353963.7:c.891T>G	ENSP00000302851.5:p.Arg297=
ENST00000504513.1:c.164+232T>G
ENST00000506512.1:n.490T>G
NM_005847.4:c.879T>G	NP_005838.3:p.Arg293=
NM_152685.3:c.891T>G	NP_689898.2:p.Arg297=
XM_005272148.3:c.999T>G	XP_005272205.3:p.Arg333=
XM_005272149.3:c.987T>G	XP_005272206.3:p.Arg329=
XM_006714741.2:c.999T>G	XP_006714804.2:p.Arg333=
XM_011543765.1:c.999T>G	XP_011542067.1:p.Arg333=
XM_011543766.1:c.780T>G	XP_011542068.1:p.Arg260=
XM_011543767.1:c.684T>G	XP_011542069.1:p.Arg228=
XM_011543768.1:c.564T>G	XP_011542070.1:p.Arg188=
XM_011543769.1:c.174T>G	XP_011542071.1:p.Arg58=
XM_005272149.4:c.987T>G	XP_005272206.3:p.Arg329=
XM_011543765.2:c.999T>G	XP_011542067.1:p.Arg333=
NM_005847.5:c.879T>G MANE Select	NP_005838.3:p.Arg293=
NM_152685.4:c.891T>G	NP_689898.2:p.Arg297=