Canonical Allele Identifier: CA446794045
Gene: SLC23A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.138715503G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139379814G>T , CM000667.2:g.139379814G>T GRCh38
NC_000005.9:g.138715503G>T , CM000667.1:g.138715503G>T GRCh37
NC_000005.8:g.138743402G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000348729.8:c.789C>A MANE Select ENSP00000302701.4:p.Thr263=
ENST00000348729.7:c.789C>A ENSP00000302701.4:p.Thr263=
ENST00000353963.7:c.801C>A ENSP00000302851.5:p.Thr267=
ENST00000504513.1:c.164+142C>A
ENST00000506512.1:n.400C>A
NM_005847.4:c.789C>A NP_005838.3:p.Thr263=
NM_152685.3:c.801C>A NP_689898.2:p.Thr267=
XM_005272148.3:c.909C>A XP_005272205.3:p.Thr303=
XM_005272149.3:c.897C>A XP_005272206.3:p.Thr299=
XM_006714741.2:c.909C>A XP_006714804.2:p.Thr303=
XM_011543765.1:c.909C>A XP_011542067.1:p.Thr303=
XM_011543766.1:c.690C>A XP_011542068.1:p.Thr230=
XM_011543767.1:c.594C>A XP_011542069.1:p.Thr198=
XM_011543768.1:c.474C>A XP_011542070.1:p.Thr158=
XM_011543769.1:c.84C>A XP_011542071.1:p.Thr28=
XM_005272149.4:c.897C>A XP_005272206.3:p.Thr299=
XM_011543765.2:c.909C>A XP_011542067.1:p.Thr303=
NM_005847.5:c.789C>A MANE Select NP_005838.3:p.Thr263=
NM_152685.4:c.801C>A NP_689898.2:p.Thr267=