Canonical Allele Identifier: CA369443942
Gene: LEP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128254576A>C , CM000669.2:g.128254576A>C GRCh38
NC_000007.13:g.127894629A>C , CM000669.1:g.127894629A>C GRCh37
NC_000007.12:g.127681865A>C NCBI36
NG_007450.1:g.18299A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000308868.5:c.317A>C MANE Select ENSP00000312652.4:p.Asp106Ala
ENST00000308868.4:c.317A>C ENSP00000312652.4:p.Asp106Ala
NM_000230.2:c.317A>C NP_000221.1:p.Asp106Ala
XM_005250340.3:c.314A>C XP_005250397.1:p.Asp105Ala
XM_005250340.5:c.314A>C XP_005250397.1:p.Asp105Ala
NM_000230.3:c.317A>C MANE Select NP_000221.1:p.Asp106Ala