Canonical Allele Identifier: CA347185894
Gene: MCEE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124210A>G , CM000664.2:g.71124210A>G GRCh38
NC_000002.11:g.71351340A>G , CM000664.1:g.71351340A>G GRCh37
NC_000002.10:g.71204848A>G NCBI36
NG_008977.1:g.11055T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.374T>C MANE Select ENSP00000244217.5:p.Ile125Thr
ENST00000244217.5:c.374T>C ENSP00000244217.5:p.Ile125Thr
ENST00000413592.5:c.84+158T>C ENSP00000391140.1:n.84+158T>C
ENST00000486135.1:c.89T>C ENSP00000441569.1:p.Ile30Thr
ENST00000494660.6:c.89T>C ENSP00000437361.1:p.Ile30Thr
NM_032601.3:c.374T>C NP_115990.3:p.Ile125Thr
XM_005264613.2:c.216+158T>C XP_005264670.1:n.216+158T>C
XR_939729.1:n.443T>C
XR_939729.2:n.443T>C
NM_032601.4:c.374T>C MANE Select NP_115990.3:p.Ile125Thr