Canonical Allele Identifier: CA347185877
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs779113206
gnomAD v3: 2-71124208-C-A
gnomAD v4: 2-71124208-C-A
COSMIC: COSM477611

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124208C>A , CM000664.2:g.71124208C>A GRCh38
NC_000002.11:g.71351338C>A , CM000664.1:g.71351338C>A GRCh37
NC_000002.10:g.71204846C>A NCBI36
NG_008977.1:g.11057G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.376G>T MANE Select ENSP00000244217.5:p.Glu126Ter
ENST00000244217.5:c.376G>T ENSP00000244217.5:p.Glu126Ter
ENST00000413592.5:c.84+160G>T ENSP00000391140.1:n.84+160G>T
ENST00000486135.1:c.91G>T ENSP00000441569.1:p.Glu31Ter
ENST00000494660.6:c.91G>T ENSP00000437361.1:p.Glu31Ter
NM_032601.3:c.376G>T NP_115990.3:p.Glu126Ter
XM_005264613.2:c.216+160G>T XP_005264670.1:n.216+160G>T
XR_939729.1:n.445G>T
XR_939729.2:n.445G>T
NM_032601.4:c.376G>T MANE Select NP_115990.3:p.Glu126Ter