Canonical Allele Identifier: CA2750403368

Gene: MCEE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124022G>A , CM000664.2:g.71124022G>A	GRCh38
NC_000002.11:g.71351152G>A , CM000664.1:g.71351152G>A	GRCh37
NC_000002.10:g.71204660G>A	NCBI36
NG_008977.1:g.11243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+184C>T MANE Select	ENSP00000244217.5:n.378+184C>T
ENST00000244217.5:c.378+184C>T	ENSP00000244217.5:n.378+184C>T
ENST00000413592.5:c.84+346C>T	ENSP00000391140.1:n.84+346C>T
NM_032601.3:c.378+184C>T	NP_115990.3:n.378+184C>T
XM_005264613.2:c.216+346C>T	XP_005264670.1:n.216+346C>T
XR_939729.1:n.447+184C>T
XR_939729.2:n.447+184C>T
NM_032601.4:c.378+184C>T MANE Select	NP_115990.3:n.378+184C>T