Canonical Allele Identifier: CA347187528
Gene: MCEE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124354A>C , CM000664.2:g.71124354A>C GRCh38
NC_000002.11:g.71351484A>C , CM000664.1:g.71351484A>C GRCh37
NC_000002.10:g.71204992A>C NCBI36
NG_008977.1:g.10911T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.230T>G MANE Select ENSP00000244217.5:p.Val77Gly
ENST00000244217.5:c.230T>G ENSP00000244217.5:p.Val77Gly
ENST00000413592.5:c.84+14T>G ENSP00000391140.1:n.84+14T>G
ENST00000486135.1:c.-56T>G ENSP00000441569.1:n.-56T>G
ENST00000494660.6:c.-56T>G ENSP00000437361.1:n.-56T>G
NM_032601.3:c.230T>G NP_115990.3:p.Val77Gly
XM_005264613.2:c.216+14T>G XP_005264670.1:n.216+14T>G
XR_939729.1:n.299T>G
XR_939729.2:n.299T>G
NM_032601.4:c.230T>G MANE Select NP_115990.3:p.Val77Gly