Canonical Allele Identifier: CA2699456844

Gene: MCEE

Linked Data

• dbSNP Id: rs2103638195

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.71123931A>G , CM000664.2:g.71123931A>G	GRCh38
NC_000002.11:g.71351061A>G , CM000664.1:g.71351061A>G	GRCh37
NC_000002.10:g.71204569A>G	NCBI36
NG_008977.1:g.11334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244217.6:c.378+275T>C MANE Select	ENSP00000244217.5:n.378+275T>C
ENST00000244217.5:c.378+275T>C	ENSP00000244217.5:n.378+275T>C
ENST00000413592.5:c.84+437T>C	ENSP00000391140.1:n.84+437T>C
NM_032601.3:c.378+275T>C	NP_115990.3:n.378+275T>C
XM_005264613.2:c.216+437T>C	XP_005264670.1:n.216+437T>C
XR_939729.1:n.447+275T>C
XR_939729.2:n.447+275T>C
NM_032601.4:c.378+275T>C MANE Select	NP_115990.3:n.378+275T>C