Canonical Allele Identifier: CA1315654394
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189564109G= , CM000664.2:g.189564109G= GRCh38
NC_000002.11:g.190428835G= , CM000664.1:g.190428835G= GRCh37
NC_000002.10:g.190137080G= NCBI36
NG_009027.1:g.21703C= , LRG_837:g.21703C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.877C= MANE Select ENSP00000261024.3:p.Arg293=
ENST00000261024.6:c.877C= ENSP00000261024.2:p.Arg293=
NM_014585.5:c.877C= , LRG_837t1:c.877C= NP_055400.1:p.Arg293=
XM_005246505.1:c.757C= XP_005246562.1:p.Arg253=
XM_005246505.2:c.757C= XP_005246562.1:p.Arg253=
XM_017003938.2:c.757C= XP_016859427.1:p.Arg253=
NM_014585.6:c.877C= MANE Select NP_055400.1:p.Arg293=