Canonical Allele Identifier: CA347188918
Gene: MCEE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124394A>G , CM000664.2:g.71124394A>G GRCh38
NC_000002.11:g.71351524A>G , CM000664.1:g.71351524A>G GRCh37
NC_000002.10:g.71205032A>G NCBI36
NG_008977.1:g.10871T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.190T>C MANE Select ENSP00000244217.5:p.Phe64Leu
ENST00000244217.5:c.190T>C ENSP00000244217.5:p.Phe64Leu
ENST00000413592.5:c.58T>C ENSP00000391140.1:p.Phe20Leu
ENST00000486135.1:c.-96T>C ENSP00000441569.1:n.-96T>C
ENST00000494660.6:c.-96T>C ENSP00000437361.1:n.-96T>C
NM_032601.3:c.190T>C NP_115990.3:p.Phe64Leu
XM_005264613.2:c.190T>C XP_005264670.1:p.Phe64Leu
XR_939729.1:n.259T>C
XR_939729.2:n.259T>C
NM_032601.4:c.190T>C MANE Select NP_115990.3:p.Phe64Leu