Canonical Allele Identifier: CA1259891128
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs1673156035

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71123968T>G , CM000664.2:g.71123968T>G GRCh38
NC_000002.11:g.71351098T>G , CM000664.1:g.71351098T>G GRCh37
NC_000002.10:g.71204606T>G NCBI36
NG_008977.1:g.11297A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+238A>C MANE Select ENSP00000244217.5:n.378+238A>C
ENST00000244217.5:c.378+238A>C ENSP00000244217.5:n.378+238A>C
ENST00000413592.5:c.84+400A>C ENSP00000391140.1:n.84+400A>C
NM_032601.3:c.378+238A>C NP_115990.3:n.378+238A>C
XM_005264613.2:c.216+400A>C XP_005264670.1:n.216+400A>C
XR_939729.1:n.447+238A>C
XR_939729.2:n.447+238A>C
NM_032601.4:c.378+238A>C MANE Select NP_115990.3:n.378+238A>C