Canonical Allele Identifier: CA369443935
Gene: LEP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128254572C>G , CM000669.2:g.128254572C>G GRCh38
NC_000007.13:g.127894625C>G , CM000669.1:g.127894625C>G GRCh37
NC_000007.12:g.127681861C>G NCBI36
NG_007450.1:g.18295C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000308868.5:c.313C>G MANE Select ENSP00000312652.4:p.Arg105Gly
ENST00000308868.4:c.313C>G ENSP00000312652.4:p.Arg105Gly
NM_000230.2:c.313C>G NP_000221.1:p.Arg105Gly
XM_005250340.3:c.310C>G XP_005250397.1:p.Arg104Gly
XM_005250340.5:c.310C>G XP_005250397.1:p.Arg104Gly
NM_000230.3:c.313C>G MANE Select NP_000221.1:p.Arg105Gly