Canonical Allele Identifier: CA347189709
Gene: MCEE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124495G>T , CM000664.2:g.71124495G>T GRCh38
NC_000002.11:g.71351625G>T , CM000664.1:g.71351625G>T GRCh37
NC_000002.10:g.71205133G>T NCBI36
NG_008977.1:g.10770C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.89C>A MANE Select ENSP00000244217.5:p.Ser30Tyr
ENST00000244217.5:c.89C>A ENSP00000244217.5:p.Ser30Tyr
ENST00000486135.1:c.-197C>A ENSP00000441569.1:n.-197C>A
ENST00000494660.6:c.-197C>A ENSP00000437361.1:n.-197C>A
NM_032601.3:c.89C>A NP_115990.3:p.Ser30Tyr
XM_005264613.2:c.89C>A XP_005264670.1:p.Ser30Tyr
XR_939729.1:n.158C>A
XR_939729.2:n.158C>A
NM_032601.4:c.89C>A MANE Select NP_115990.3:p.Ser30Tyr