Canonical Allele Identifier: CA347187517
Gene: MCEE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124351G>C , CM000664.2:g.71124351G>C GRCh38
NC_000002.11:g.71351481G>C , CM000664.1:g.71351481G>C GRCh37
NC_000002.10:g.71204989G>C NCBI36
NG_008977.1:g.10914C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.233C>G MANE Select ENSP00000244217.5:p.Pro78Arg
ENST00000244217.5:c.233C>G ENSP00000244217.5:p.Pro78Arg
ENST00000413592.5:c.84+17C>G ENSP00000391140.1:n.84+17C>G
ENST00000486135.1:c.-53C>G ENSP00000441569.1:n.-53C>G
ENST00000494660.6:c.-53C>G ENSP00000437361.1:n.-53C>G
NM_032601.3:c.233C>G NP_115990.3:p.Pro78Arg
XM_005264613.2:c.216+17C>G XP_005264670.1:n.216+17C>G
XR_939729.1:n.302C>G
XR_939729.2:n.302C>G
NM_032601.4:c.233C>G MANE Select NP_115990.3:p.Pro78Arg