Canonical Allele Identifier: CA2067518062
Gene: MLEC HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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