Canonical Allele Identifier: CA446793943

Gene: SLC23A1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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