Canonical Allele Identifier: CA1315654092
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563838C= , CM000664.2:g.189563838C= GRCh38
NC_000002.11:g.190428564C= , CM000664.1:g.190428564C= GRCh37
NC_000002.10:g.190136809C= NCBI36
NG_009027.1:g.21974G= , LRG_837:g.21974G=

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.1148G= MANE Select ENSP00000261024.3:p.Cys383=
ENST00000261024.6:c.1148G= ENSP00000261024.2:p.Cys383=
NM_014585.5:c.1148G= , LRG_837t1:c.1148G= NP_055400.1:p.Cys383=
XM_005246505.1:c.1028G= XP_005246562.1:p.Cys343=
XM_005246505.2:c.1028G= XP_005246562.1:p.Cys343=
XM_017003938.2:c.1028G= XP_016859427.1:p.Cys343=
NM_014585.6:c.1148G= MANE Select NP_055400.1:p.Cys383=