Canonical Allele Identifier: CA1259891110
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs72903576

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71123944C>G , CM000664.2:g.71123944C>G GRCh38
NC_000002.11:g.71351074C>G , CM000664.1:g.71351074C>G GRCh37
NC_000002.10:g.71204582C>G NCBI36
NG_008977.1:g.11321G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+262G>C MANE Select ENSP00000244217.5:n.378+262G>C
ENST00000244217.5:c.378+262G>C ENSP00000244217.5:n.378+262G>C
ENST00000413592.5:c.84+424G>C ENSP00000391140.1:n.84+424G>C
NM_032601.3:c.378+262G>C NP_115990.3:n.378+262G>C
XM_005264613.2:c.216+424G>C XP_005264670.1:n.216+424G>C
XR_939729.1:n.447+262G>C
XR_939729.2:n.447+262G>C
NM_032601.4:c.378+262G>C MANE Select NP_115990.3:n.378+262G>C