Canonical Allele Identifier: CA166745189
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs200187656
gnomAD v4: 7-128254472-C-T
MyVariant Identifiers: chr7:g.127894525C>T (hg19) chr7:g.128254472C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128254472C>T , CM000669.2:g.128254472C>T GRCh38
NC_000007.13:g.127894525C>T , CM000669.1:g.127894525C>T GRCh37
NC_000007.12:g.127681761C>T NCBI36
NG_007450.1:g.18195C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000308868.5:c.213C>T MANE Select ENSP00000312652.4:p.Thr71=
ENST00000308868.4:c.213C>T ENSP00000312652.4:p.Thr71=
NM_000230.2:c.213C>T NP_000221.1:p.Thr71=
XM_005250340.3:c.210C>T XP_005250397.1:p.Thr70=
XM_005250340.5:c.210C>T XP_005250397.1:p.Thr70=
NM_000230.3:c.213C>T MANE Select NP_000221.1:p.Thr71=
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