Canonical Allele Identifier: CA347187331
Gene: MCEE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124325C>T , CM000664.2:g.71124325C>T GRCh38
NC_000002.11:g.71351455C>T , CM000664.1:g.71351455C>T GRCh37
NC_000002.10:g.71204963C>T NCBI36
NG_008977.1:g.10940G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.259G>A MANE Select ENSP00000244217.5:p.Val87Ile
ENST00000244217.5:c.259G>A ENSP00000244217.5:p.Val87Ile
ENST00000413592.5:c.84+43G>A ENSP00000391140.1:n.84+43G>A
ENST00000486135.1:c.-27G>A ENSP00000441569.1:n.-27G>A
ENST00000494660.6:c.-27G>A ENSP00000437361.1:n.-27G>A
NM_032601.3:c.259G>A NP_115990.3:p.Val87Ile
XM_005264613.2:c.216+43G>A XP_005264670.1:n.216+43G>A
XR_939729.1:n.328G>A
XR_939729.2:n.328G>A
NM_032601.4:c.259G>A MANE Select NP_115990.3:p.Val87Ile