Canonical Allele Identifier: CA1315650299
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571721G= , CM000664.2:g.189571721G= GRCh38
NC_000002.11:g.190436447G= , CM000664.1:g.190436447G= GRCh37
NC_000002.10:g.190144692G= NCBI36
NG_009027.1:g.14091C= , LRG_837:g.14091C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.508C= MANE Select ENSP00000261024.3:p.Leu170=
ENST00000261024.6:c.508C= ENSP00000261024.2:p.Leu170=
ENST00000427241.5:c.508C= ENSP00000390005.1:p.Leu170=
NM_014585.5:c.508C= , LRG_837t1:c.508C= NP_055400.1:p.Leu170=
XM_005246505.1:c.388C= XP_005246562.1:p.Leu130=
XM_005246505.2:c.388C= XP_005246562.1:p.Leu130=
XM_017003938.2:c.388C= XP_016859427.1:p.Leu130=
NM_014585.6:c.508C= MANE Select NP_055400.1:p.Leu170=