Canonical Allele Identifier: CA2659522366
Gene: MCEE HGNC NCBI

Linked Data

gnomAD v4: 2-71124066-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124066G>A , CM000664.2:g.71124066G>A GRCh38
NC_000002.11:g.71351196G>A , CM000664.1:g.71351196G>A GRCh37
NC_000002.10:g.71204704G>A NCBI36
NG_008977.1:g.11199C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.378+140C>T MANE Select ENSP00000244217.5:n.378+140C>T
ENST00000244217.5:c.378+140C>T ENSP00000244217.5:n.378+140C>T
ENST00000413592.5:c.84+302C>T ENSP00000391140.1:n.84+302C>T
NM_032601.3:c.378+140C>T NP_115990.3:n.378+140C>T
XM_005264613.2:c.216+302C>T XP_005264670.1:n.216+302C>T
XR_939729.1:n.447+140C>T
XR_939729.2:n.447+140C>T
NM_032601.4:c.378+140C>T MANE Select NP_115990.3:n.378+140C>T
Search 100 bp 5'
Search 100 bp 3'