Canonical Allele Identifier: CA2576998200

Gene: MCEE

Linked Data

• gnomAD v4: 2-71124135-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124135A>T , CM000664.2:g.71124135A>T	GRCh38
NC_000002.11:g.71351265A>T , CM000664.1:g.71351265A>T	GRCh37
NC_000002.10:g.71204773A>T	NCBI36
NG_008977.1:g.11130T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+71T>A MANE Select	ENSP00000244217.5:n.378+71T>A
ENST00000244217.5:c.378+71T>A	ENSP00000244217.5:n.378+71T>A
ENST00000413592.5:c.84+233T>A	ENSP00000391140.1:n.84+233T>A
NM_032601.3:c.378+71T>A	NP_115990.3:n.378+71T>A
XM_005264613.2:c.216+233T>A	XP_005264670.1:n.216+233T>A
XR_939729.1:n.447+71T>A
XR_939729.2:n.447+71T>A
NM_032601.4:c.378+71T>A MANE Select	NP_115990.3:n.378+71T>A