Canonical Allele Identifier: CA1315653780
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575282C= , CM000664.2:g.189575282C= GRCh38
NC_000002.11:g.190440008C= , CM000664.1:g.190440008C= GRCh37
NC_000002.10:g.190148253C= NCBI36
NG_009027.1:g.10530G= , LRG_837:g.10530G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.150G= MANE Select ENSP00000261024.3:p.Leu50=
ENST00000261024.6:c.150G= ENSP00000261024.2:p.Leu50=
ENST00000418714.1:n.591G=
ENST00000427241.5:c.150G= ENSP00000390005.1:p.Leu50=
ENST00000455320.5:c.150G= ENSP00000413549.1:p.Leu50=
ENST00000479598.5:n.431G=
NM_014585.5:c.150G= , LRG_837t1:c.150G= NP_055400.1:p.Leu50=
XM_005246505.1:c.30G= XP_005246562.1:p.Leu10=
XM_005246505.2:c.30G= XP_005246562.1:p.Leu10=
XM_017003938.2:c.30G= XP_016859427.1:p.Leu10=
NM_014585.6:c.150G= MANE Select NP_055400.1:p.Leu50=