Canonical Allele Identifier: CA369443946
Gene: LEP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128254577T>A , CM000669.2:g.128254577T>A GRCh38
NC_000007.13:g.127894630T>A , CM000669.1:g.127894630T>A GRCh37
NC_000007.12:g.127681866T>A NCBI36
NG_007450.1:g.18300T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308868.5:c.318T>A MANE Select ENSP00000312652.4:p.Asp106Glu
ENST00000308868.4:c.318T>A ENSP00000312652.4:p.Asp106Glu
NM_000230.2:c.318T>A NP_000221.1:p.Asp106Glu
XM_005250340.3:c.315T>A XP_005250397.1:p.Asp105Glu
XM_005250340.5:c.315T>A XP_005250397.1:p.Asp105Glu
NM_000230.3:c.318T>A MANE Select NP_000221.1:p.Asp106Glu