Canonical Allele Identifier: CA1032051157

Gene: MCEE

Linked Data

• dbSNP Id: rs1673164882
• gnomAD v3: 2-71124149-G-T
• gnomAD v4: 2-71124149-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71124149G>T , CM000664.2:g.71124149G>T	GRCh38
NC_000002.11:g.71351279G>T , CM000664.1:g.71351279G>T	GRCh37
NC_000002.10:g.71204787G>T	NCBI36
NG_008977.1:g.11116C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+57C>A MANE Select	ENSP00000244217.5:n.378+57C>A
ENST00000244217.5:c.378+57C>A	ENSP00000244217.5:n.378+57C>A
ENST00000413592.5:c.84+219C>A	ENSP00000391140.1:n.84+219C>A
NM_032601.3:c.378+57C>A	NP_115990.3:n.378+57C>A
XM_005264613.2:c.216+219C>A	XP_005264670.1:n.216+219C>A
XR_939729.1:n.447+57C>A
XR_939729.2:n.447+57C>A
NM_032601.4:c.378+57C>A MANE Select	NP_115990.3:n.378+57C>A