Canonical Allele Identifier: CA1315653971
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563738C= , CM000664.2:g.189563738C= GRCh38
NC_000002.11:g.190428464C= , CM000664.1:g.190428464C= GRCh37
NC_000002.10:g.190136709C= NCBI36
NG_009027.1:g.22074G= , LRG_837:g.22074G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1248G= MANE Select ENSP00000261024.3:p.Glu416=
ENST00000261024.6:c.1248G= ENSP00000261024.2:p.Glu416=
NM_014585.5:c.1248G= , LRG_837t1:c.1248G= NP_055400.1:p.Glu416=
XM_005246505.1:c.1128G= XP_005246562.1:p.Glu376=
XM_005246505.2:c.1128G= XP_005246562.1:p.Glu376=
XM_017003938.2:c.1128G= XP_016859427.1:p.Glu376=
NM_014585.6:c.1248G= MANE Select NP_055400.1:p.Glu416=