Canonical Allele Identifier: CA13749079
Gene: MLEC HGNC NCBI
gnomAD v2:
12:121128926 C / T
gnomAD v3:
12:120691123 C / T
gnomAD v4:
chr12-120691123-C-T
Joint Max Group AF 0.37214848 (SAS)
Genomes Max Group AF 0.37214848 (SAS)
ClinVar RCV:
RCV001609016
ClinVar Variation:
1227142
dbSNP:
10431386
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120691123C>T , CM000674.2:g.120691123C>T GRCh38
NC_000012.11:g.121128926C>T , CM000674.1:g.121128926C>T GRCh37
NC_000012.10:g.119613309C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000228506.8:c.236-2968C>T MANE Select ENSP00000228506.3:n.236-2968C>T
ENST00000228506.7:c.236-2968C>T ENSP00000228506.3:n.236-2968C>T
ENST00000412616.2:c.236-2968C>T ENSP00000440746.1:n.236-2968C>T
NM_001303627.1:c.-15+2689C>T NP_001290556.1:n.-15+2689C>T
NM_001303628.1:c.236-2968C>T NP_001290557.1:n.236-2968C>T
NM_014730.3:c.236-2968C>T NP_055545.1:n.236-2968C>T
XM_011539031.1:c.-2020C>T XP_011537333.1:n.-2020C>T
XM_011539032.1:c.-1708C>T XP_011537334.1:n.-1708C>T
XM_011539033.1:c.-1117C>T XP_011537335.1:n.-1117C>T
XM_011539034.1:c.-648+359C>T XP_011537336.1:n.-648+359C>T
NM_014730.4:c.236-2968C>T MANE Select NP_055545.1:n.236-2968C>T
NM_001303628.2:c.236-2968C>T NP_001290557.1:n.236-2968C>T
NM_001303627.2:c.-15+2689C>T NP_001290556.1:n.-15+2689C>T
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