Canonical Allele Identifier: CA1586303582
Gene: SLC23A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139379681G= , CM000667.2:g.139379681G= GRCh38
NC_000005.9:g.138715370G= , CM000667.1:g.138715370G= GRCh37
NC_000005.8:g.138743269G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348729.8:c.922C= MANE Select ENSP00000302701.4:p.Pro308=
ENST00000348729.7:c.922C= ENSP00000302701.4:p.Pro308=
ENST00000353963.7:c.934C= ENSP00000302851.5:p.Pro312=
ENST00000504513.1:c.164+275C=
ENST00000506512.1:n.533C=
NM_005847.4:c.922C= NP_005838.3:p.Pro308=
NM_152685.3:c.934C= NP_689898.2:p.Pro312=
XM_005272148.3:c.1042C= XP_005272205.3:p.Pro348=
XM_005272149.3:c.1030C= XP_005272206.3:p.Pro344=
XM_006714741.2:c.1042C= XP_006714804.2:p.Pro348=
XM_011543765.1:c.1042C= XP_011542067.1:p.Pro348=
XM_011543766.1:c.823C= XP_011542068.1:p.Pro275=
XM_011543767.1:c.727C= XP_011542069.1:p.Pro243=
XM_011543768.1:c.607C= XP_011542070.1:p.Pro203=
XM_011543769.1:c.217C= XP_011542071.1:p.Pro73=
XM_005272149.4:c.1030C= XP_005272206.3:p.Pro344=
XM_011543765.2:c.1042C= XP_011542067.1:p.Pro348=
NM_005847.5:c.922C= MANE Select NP_005838.3:p.Pro308=
NM_152685.4:c.934C= NP_689898.2:p.Pro312=