Canonical Allele Identifier: CA1315653775
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575275G= , CM000664.2:g.189575275G= GRCh38
NC_000002.11:g.190440001G= , CM000664.1:g.190440001G= GRCh37
NC_000002.10:g.190148246G= NCBI36
NG_009027.1:g.10537C= , LRG_837:g.10537C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.157C= MANE Select ENSP00000261024.3:p.Leu53=
ENST00000261024.6:c.157C= ENSP00000261024.2:p.Leu53=
ENST00000418714.1:n.598C=
ENST00000427241.5:c.157C= ENSP00000390005.1:p.Leu53=
ENST00000455320.5:c.157C= ENSP00000413549.1:p.Leu53=
ENST00000479598.5:n.438C=
NM_014585.5:c.157C= , LRG_837t1:c.157C= NP_055400.1:p.Leu53=
XM_005246505.1:c.37C= XP_005246562.1:p.Leu13=
XM_005246505.2:c.37C= XP_005246562.1:p.Leu13=
XM_017003938.2:c.37C= XP_016859427.1:p.Leu13=
NM_014585.6:c.157C= MANE Select NP_055400.1:p.Leu53=