Canonical Allele Identifier: CA1702657
Gene: MCEE HGNC NCBI

Linked Data

dbSNP Id: rs771945794
gnomAD v2: 2-71351699-T-G
gnomAD v3: 2-71124569-T-G
gnomAD v4: 2-71124569-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124569T>G , CM000664.2:g.71124569T>G GRCh38
NC_000002.11:g.71351699T>G , CM000664.1:g.71351699T>G GRCh37
NC_000002.10:g.71205207T>G NCBI36
NG_008977.1:g.10696A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.41-26A>C MANE Select ENSP00000244217.5:n.41-26A>C
ENST00000244217.5:c.41-26A>C ENSP00000244217.5:n.41-26A>C
ENST00000486135.1:c.-245-26A>C ENSP00000441569.1:n.-245-26A>C
ENST00000494660.6:c.-245-26A>C ENSP00000437361.1:n.-245-26A>C
NM_032601.3:c.41-26A>C NP_115990.3:n.41-26A>C
XM_005264613.2:c.41-26A>C XP_005264670.1:n.41-26A>C
XR_939729.1:n.110-26A>C
XR_939729.2:n.110-26A>C
NM_032601.4:c.41-26A>C MANE Select NP_115990.3:n.41-26A>C