Canonical Allele Identifier: CA1107008225
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs558711204
gnomAD v3: 7-128250085-G-A
gnomAD v4: 7-128250085-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128250085G>A , CM000669.2:g.128250085G>A GRCh38
NC_000007.13:g.127890138G>A , CM000669.1:g.127890138G>A GRCh37
NC_000007.12:g.127677374G>A NCBI36
NG_007450.1:g.13808G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308868.5:c.-28-1906G>A MANE Select ENSP00000312652.4:n.-28-1906G>A
ENST00000308868.4:c.-28-1906G>A ENSP00000312652.4:n.-28-1906G>A
NM_000230.2:c.-28-1906G>A NP_000221.1:n.-28-1906G>A
XM_005250340.3:c.-28-1906G>A XP_005250397.1:n.-28-1906G>A
XM_005250340.5:c.-28-1906G>A XP_005250397.1:n.-28-1906G>A
NM_000230.3:c.-28-1906G>A MANE Select NP_000221.1:n.-28-1906G>A
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