Canonical Allele Identifier: CA2659522895
Gene: MCEE HGNC NCBI

Linked Data

gnomAD v4: 2-71124565-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124565G>A , CM000664.2:g.71124565G>A GRCh38
NC_000002.11:g.71351695G>A , CM000664.1:g.71351695G>A GRCh37
NC_000002.10:g.71205203G>A NCBI36
NG_008977.1:g.10700C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.41-22C>T MANE Select ENSP00000244217.5:n.41-22C>T
ENST00000244217.5:c.41-22C>T ENSP00000244217.5:n.41-22C>T
ENST00000486135.1:c.-245-22C>T ENSP00000441569.1:n.-245-22C>T
ENST00000494660.6:c.-245-22C>T ENSP00000437361.1:n.-245-22C>T
NM_032601.3:c.41-22C>T NP_115990.3:n.41-22C>T
XM_005264613.2:c.41-22C>T XP_005264670.1:n.41-22C>T
XR_939729.1:n.110-22C>T
XR_939729.2:n.110-22C>T
NM_032601.4:c.41-22C>T MANE Select NP_115990.3:n.41-22C>T