Canonical Allele Identifier: CA347186142
Gene: MCEE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124226T>A , CM000664.2:g.71124226T>A GRCh38
NC_000002.11:g.71351356T>A , CM000664.1:g.71351356T>A GRCh37
NC_000002.10:g.71204864T>A NCBI36
NG_008977.1:g.11039A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.358A>T MANE Select ENSP00000244217.5:p.Met120Leu
ENST00000244217.5:c.358A>T ENSP00000244217.5:p.Met120Leu
ENST00000413592.5:c.84+142A>T ENSP00000391140.1:n.84+142A>T
ENST00000486135.1:c.73A>T ENSP00000441569.1:p.Met25Leu
ENST00000494660.6:c.73A>T ENSP00000437361.1:p.Met25Leu
NM_032601.3:c.358A>T NP_115990.3:p.Met120Leu
XM_005264613.2:c.216+142A>T XP_005264670.1:n.216+142A>T
XR_939729.1:n.427A>T
XR_939729.2:n.427A>T
NM_032601.4:c.358A>T MANE Select NP_115990.3:p.Met120Leu