Canonical Allele Identifier: CA1107007404
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs1795223825
gnomAD v3: 7-128247384-C-T
gnomAD v4: 7-128247384-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128247384C>T , CM000669.2:g.128247384C>T GRCh38
NC_000007.13:g.127887437C>T , CM000669.1:g.127887437C>T GRCh37
NC_000007.12:g.127674673C>T NCBI36
NG_007450.1:g.11107C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-4607C>T MANE Select ENSP00000312652.4:n.-28-4607C>T
ENST00000308868.4:c.-28-4607C>T ENSP00000312652.4:n.-28-4607C>T
NM_000230.2:c.-28-4607C>T NP_000221.1:n.-28-4607C>T
XM_005250340.3:c.-28-4607C>T XP_005250397.1:n.-28-4607C>T
XM_005250340.5:c.-28-4607C>T XP_005250397.1:n.-28-4607C>T
NM_000230.3:c.-28-4607C>T MANE Select NP_000221.1:n.-28-4607C>T
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