Canonical Allele Identifier: CA1259891152
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs1673158452

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124050G>A , CM000664.2:g.71124050G>A GRCh38
NC_000002.11:g.71351180G>A , CM000664.1:g.71351180G>A GRCh37
NC_000002.10:g.71204688G>A NCBI36
NG_008977.1:g.11215C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+156C>T MANE Select ENSP00000244217.5:n.378+156C>T
ENST00000244217.5:c.378+156C>T ENSP00000244217.5:n.378+156C>T
ENST00000413592.5:c.84+318C>T ENSP00000391140.1:n.84+318C>T
NM_032601.3:c.378+156C>T NP_115990.3:n.378+156C>T
XM_005264613.2:c.216+318C>T XP_005264670.1:n.216+318C>T
XR_939729.1:n.447+156C>T
XR_939729.2:n.447+156C>T
NM_032601.4:c.378+156C>T MANE Select NP_115990.3:n.378+156C>T