Canonical Allele Identifier: CA347190002
Gene: MCEE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124519G>A , CM000664.2:g.71124519G>A GRCh38
NC_000002.11:g.71351649G>A , CM000664.1:g.71351649G>A GRCh37
NC_000002.10:g.71205157G>A NCBI36
NG_008977.1:g.10746C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.65C>T MANE Select ENSP00000244217.5:p.Pro22Leu
ENST00000244217.5:c.65C>T ENSP00000244217.5:p.Pro22Leu
ENST00000486135.1:c.-221C>T ENSP00000441569.1:n.-221C>T
ENST00000494660.6:c.-221C>T ENSP00000437361.1:n.-221C>T
NM_032601.3:c.65C>T NP_115990.3:p.Pro22Leu
XM_005264613.2:c.65C>T XP_005264670.1:p.Pro22Leu
XR_939729.1:n.134C>T
XR_939729.2:n.134C>T
NM_032601.4:c.65C>T MANE Select NP_115990.3:p.Pro22Leu