Canonical Allele Identifier: CA12481974
Gene: LEP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128252927T>C , CM000669.2:g.128252927T>C GRCh38
NC_000007.13:g.127892980T>C , CM000669.1:g.127892980T>C GRCh37
NC_000007.12:g.127680216T>C NCBI36
NG_007450.1:g.16650T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.144+765T>C MANE Select ENSP00000312652.4:n.144+765T>C
ENST00000308868.4:c.144+765T>C ENSP00000312652.4:n.144+765T>C
NM_000230.2:c.144+765T>C NP_000221.1:n.144+765T>C
XM_005250340.3:c.144+765T>C XP_005250397.1:n.144+765T>C
XM_005250340.5:c.144+765T>C XP_005250397.1:n.144+765T>C
NM_000230.3:c.144+765T>C MANE Select NP_000221.1:n.144+765T>C