Canonical Allele Identifier: CA1586303596
Gene: SLC23A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139379687G= , CM000667.2:g.139379687G= GRCh38
NC_000005.9:g.138715376G= , CM000667.1:g.138715376G= GRCh37
NC_000005.8:g.138743275G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348729.8:c.916C= MANE Select ENSP00000302701.4:p.Pro306=
ENST00000348729.7:c.916C= ENSP00000302701.4:p.Pro306=
ENST00000353963.7:c.928C= ENSP00000302851.5:p.Pro310=
ENST00000504513.1:c.164+269C=
ENST00000506512.1:n.527C=
NM_005847.4:c.916C= NP_005838.3:p.Pro306=
NM_152685.3:c.928C= NP_689898.2:p.Pro310=
XM_005272148.3:c.1036C= XP_005272205.3:p.Pro346=
XM_005272149.3:c.1024C= XP_005272206.3:p.Pro342=
XM_006714741.2:c.1036C= XP_006714804.2:p.Pro346=
XM_011543765.1:c.1036C= XP_011542067.1:p.Pro346=
XM_011543766.1:c.817C= XP_011542068.1:p.Pro273=
XM_011543767.1:c.721C= XP_011542069.1:p.Pro241=
XM_011543768.1:c.601C= XP_011542070.1:p.Pro201=
XM_011543769.1:c.211C= XP_011542071.1:p.Pro71=
XM_005272149.4:c.1024C= XP_005272206.3:p.Pro342=
XM_011543765.2:c.1036C= XP_011542067.1:p.Pro346=
NM_005847.5:c.916C= MANE Select NP_005838.3:p.Pro306=
NM_152685.4:c.928C= NP_689898.2:p.Pro310=