Canonical Allele Identifier: CA361139482
Gene: SLC23A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139379701G>T , CM000667.2:g.139379701G>T GRCh38
NC_000005.9:g.138715390G>T , CM000667.1:g.138715390G>T GRCh37
NC_000005.8:g.138743289G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000348729.8:c.902C>A MANE Select ENSP00000302701.4:p.Pro301His
ENST00000348729.7:c.902C>A ENSP00000302701.4:p.Pro301His
ENST00000353963.7:c.914C>A ENSP00000302851.5:p.Pro305His
ENST00000504513.1:c.164+255C>A
ENST00000506512.1:n.513C>A
NM_005847.4:c.902C>A NP_005838.3:p.Pro301His
NM_152685.3:c.914C>A NP_689898.2:p.Pro305His
XM_005272148.3:c.1022C>A XP_005272205.3:p.Pro341His
XM_005272149.3:c.1010C>A XP_005272206.3:p.Pro337His
XM_006714741.2:c.1022C>A XP_006714804.2:p.Pro341His
XM_011543765.1:c.1022C>A XP_011542067.1:p.Pro341His
XM_011543766.1:c.803C>A XP_011542068.1:p.Pro268His
XM_011543767.1:c.707C>A XP_011542069.1:p.Pro236His
XM_011543768.1:c.587C>A XP_011542070.1:p.Pro196His
XM_011543769.1:c.197C>A XP_011542071.1:p.Pro66His
XM_005272149.4:c.1010C>A XP_005272206.3:p.Pro337His
XM_011543765.2:c.1022C>A XP_011542067.1:p.Pro341His
NM_005847.5:c.902C>A MANE Select NP_005838.3:p.Pro301His
NM_152685.4:c.914C>A NP_689898.2:p.Pro305His