Canonical Allele Identifier: CA1586303790
Gene: SLC23A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139379813C= , CM000667.2:g.139379813C= GRCh38
NC_000005.9:g.138715502C= , CM000667.1:g.138715502C= GRCh37
NC_000005.8:g.138743401C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348729.8:c.790G= MANE Select ENSP00000302701.4:p.Val264=
ENST00000348729.7:c.790G= ENSP00000302701.4:p.Val264=
ENST00000353963.7:c.802G= ENSP00000302851.5:p.Val268=
ENST00000504513.1:c.164+143G=
ENST00000506512.1:n.401G=
NM_005847.4:c.790G= NP_005838.3:p.Val264=
NM_152685.3:c.802G= NP_689898.2:p.Val268=
XM_005272148.3:c.910G= XP_005272205.3:p.Val304=
XM_005272149.3:c.898G= XP_005272206.3:p.Val300=
XM_006714741.2:c.910G= XP_006714804.2:p.Val304=
XM_011543765.1:c.910G= XP_011542067.1:p.Val304=
XM_011543766.1:c.691G= XP_011542068.1:p.Val231=
XM_011543767.1:c.595G= XP_011542069.1:p.Val199=
XM_011543768.1:c.475G= XP_011542070.1:p.Val159=
XM_011543769.1:c.85G= XP_011542071.1:p.Val29=
XM_005272149.4:c.898G= XP_005272206.3:p.Val300=
XM_011543765.2:c.910G= XP_011542067.1:p.Val304=
NM_005847.5:c.790G= MANE Select NP_005838.3:p.Val264=
NM_152685.4:c.802G= NP_689898.2:p.Val268=