Canonical Allele Identifier: CA347189496
Gene: MCEE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124474T>C , CM000664.2:g.71124474T>C GRCh38
NC_000002.11:g.71351604T>C , CM000664.1:g.71351604T>C GRCh37
NC_000002.10:g.71205112T>C NCBI36
NG_008977.1:g.10791A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.110A>G MANE Select ENSP00000244217.5:p.Gln37Arg
ENST00000244217.5:c.110A>G ENSP00000244217.5:p.Gln37Arg
ENST00000486135.1:c.-176A>G ENSP00000441569.1:n.-176A>G
ENST00000494660.6:c.-176A>G ENSP00000437361.1:n.-176A>G
NM_032601.3:c.110A>G NP_115990.3:p.Gln37Arg
XM_005264613.2:c.110A>G XP_005264670.1:p.Gln37Arg
XR_939729.1:n.179A>G
XR_939729.2:n.179A>G
NM_032601.4:c.110A>G MANE Select NP_115990.3:p.Gln37Arg