Canonical Allele Identifier: CA1107007468
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs1795226083
gnomAD v3: 7-128247508-G-C
gnomAD v4: 7-128247508-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128247508G>C , CM000669.2:g.128247508G>C GRCh38
NC_000007.13:g.127887561G>C , CM000669.1:g.127887561G>C GRCh37
NC_000007.12:g.127674797G>C NCBI36
NG_007450.1:g.11231G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-4483G>C MANE Select ENSP00000312652.4:n.-28-4483G>C
ENST00000308868.4:c.-28-4483G>C ENSP00000312652.4:n.-28-4483G>C
NM_000230.2:c.-28-4483G>C NP_000221.1:n.-28-4483G>C
XM_005250340.3:c.-28-4483G>C XP_005250397.1:n.-28-4483G>C
XM_005250340.5:c.-28-4483G>C XP_005250397.1:n.-28-4483G>C
NM_000230.3:c.-28-4483G>C MANE Select NP_000221.1:n.-28-4483G>C
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