Canonical Allele Identifier: CA1315645080
Community Standard Title: NM_014585.6(SLC40A1):c.542A= (p.Asp181=)
Gene: SLC40A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189565572T= , CM000664.2:g.189565572T= GRCh38
NC_000002.11:g.190430298T= , CM000664.1:g.190430298T= GRCh37
NC_000002.10:g.190138543T= NCBI36
NG_009027.1:g.20240A= , LRG_837:g.20240A=

Transcript Alleles

HGVS Amino-acid Change
NM_014585.6:c.542A= MANE Select NP_055400.1:p.Asp181=
ENST00000261024.7:c.542A= MANE Select ENSP00000261024.3:p.Asp181=
NM_014585.5:c.542A= , LRG_837t1:c.542A= NP_055400.1:p.Asp181=
ENST00000261024.6:c.542A= ENSP00000261024.2:p.Asp181=
ENST00000427241.5:c.542A= ENSP00000390005.1:p.Asp181=
XM_005246505.1:c.422A= XP_005246562.1:p.Asp141=
XM_005246505.2:c.422A= XP_005246562.1:p.Asp141=
XM_017003938.2:c.422A= XP_016859427.1:p.Asp141=