Canonical Allele Identifier: CA1315654094
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563845G= , CM000664.2:g.189563845G= GRCh38
NC_000002.11:g.190428571G= , CM000664.1:g.190428571G= GRCh37
NC_000002.10:g.190136816G= NCBI36
NG_009027.1:g.21967C= , LRG_837:g.21967C=

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.1141C= MANE Select ENSP00000261024.3:p.Leu381=
ENST00000261024.6:c.1141C= ENSP00000261024.2:p.Leu381=
NM_014585.5:c.1141C= , LRG_837t1:c.1141C= NP_055400.1:p.Leu381=
XM_005246505.1:c.1021C= XP_005246562.1:p.Leu341=
XM_005246505.2:c.1021C= XP_005246562.1:p.Leu341=
XM_017003938.2:c.1021C= XP_016859427.1:p.Leu341=
NM_014585.6:c.1141C= MANE Select NP_055400.1:p.Leu381=