Canonical Allele Identifier: CA1315654390
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564108C= , CM000664.2:g.189564108C= GRCh38
NC_000002.11:g.190428834C= , CM000664.1:g.190428834C= GRCh37
NC_000002.10:g.190137079C= NCBI36
NG_009027.1:g.21704G= , LRG_837:g.21704G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.878G= MANE Select ENSP00000261024.3:p.Arg293=
ENST00000261024.6:c.878G= ENSP00000261024.2:p.Arg293=
NM_014585.5:c.878G= , LRG_837t1:c.878G= NP_055400.1:p.Arg293=
XM_005246505.1:c.758G= XP_005246562.1:p.Arg253=
XM_005246505.2:c.758G= XP_005246562.1:p.Arg253=
XM_017003938.2:c.758G= XP_016859427.1:p.Arg253=
NM_014585.6:c.878G= MANE Select NP_055400.1:p.Arg293=