Canonical Allele Identifier: CA2576998197

Gene: MCEE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124121C>T , CM000664.2:g.71124121C>T	GRCh38
NC_000002.11:g.71351251C>T , CM000664.1:g.71351251C>T	GRCh37
NC_000002.10:g.71204759C>T	NCBI36
NG_008977.1:g.11144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+85G>A MANE Select	ENSP00000244217.5:n.378+85G>A
ENST00000244217.5:c.378+85G>A	ENSP00000244217.5:n.378+85G>A
ENST00000413592.5:c.84+247G>A	ENSP00000391140.1:n.84+247G>A
NM_032601.3:c.378+85G>A	NP_115990.3:n.378+85G>A
XM_005264613.2:c.216+247G>A	XP_005264670.1:n.216+247G>A
XR_939729.1:n.447+85G>A
XR_939729.2:n.447+85G>A
NM_032601.4:c.378+85G>A MANE Select	NP_115990.3:n.378+85G>A