Canonical Allele Identifier: CA369443750
Gene: LEP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128254487C>A , CM000669.2:g.128254487C>A GRCh38
NC_000007.13:g.127894540C>A , CM000669.1:g.127894540C>A GRCh37
NC_000007.12:g.127681776C>A NCBI36
NG_007450.1:g.18210C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308868.5:c.228C>A MANE Select ENSP00000312652.4:p.Asp76Glu
ENST00000308868.4:c.228C>A ENSP00000312652.4:p.Asp76Glu
NM_000230.2:c.228C>A NP_000221.1:p.Asp76Glu
XM_005250340.3:c.225C>A XP_005250397.1:p.Asp75Glu
XM_005250340.5:c.225C>A XP_005250397.1:p.Asp75Glu
NM_000230.3:c.228C>A MANE Select NP_000221.1:p.Asp76Glu