Canonical Allele Identifier: CA426693126
Gene: MCEE HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71130193G>T , CM000664.2:g.71130193G>T GRCh38
NC_000002.11:g.71357323G>T , CM000664.1:g.71357323G>T GRCh37
NC_000002.10:g.71210831G>T NCBI36
NG_008977.1:g.5072C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.27C>A MANE Select ENSP00000244217.5:p.Ala9=
ENST00000244217.5:c.27C>A ENSP00000244217.5:p.Ala9=
ENST00000486135.1:c.-360C>A ENSP00000441569.1:n.-360C>A
ENST00000494660.6:c.-722C>A ENSP00000437361.1:n.-722C>A
NM_032601.3:c.27C>A NP_115990.3:p.Ala9=
XM_005264613.2:c.27C>A XP_005264670.1:p.Ala9=
XR_939729.1:n.96C>A
XR_939729.2:n.96C>A
NM_032601.4:c.27C>A MANE Select NP_115990.3:p.Ala9=