Canonical Allele Identifier: CA2576998194
Gene: MCEE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124107A>T , CM000664.2:g.71124107A>T GRCh38
NC_000002.11:g.71351237A>T , CM000664.1:g.71351237A>T GRCh37
NC_000002.10:g.71204745A>T NCBI36
NG_008977.1:g.11158T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+99T>A MANE Select ENSP00000244217.5:n.378+99T>A
ENST00000244217.5:c.378+99T>A ENSP00000244217.5:n.378+99T>A
ENST00000413592.5:c.84+261T>A ENSP00000391140.1:n.84+261T>A
NM_032601.3:c.378+99T>A NP_115990.3:n.378+99T>A
XM_005264613.2:c.216+261T>A XP_005264670.1:n.216+261T>A
XR_939729.1:n.447+99T>A
XR_939729.2:n.447+99T>A
NM_032601.4:c.378+99T>A MANE Select NP_115990.3:n.378+99T>A