Canonical Allele Identifier: CA347186209
Gene: MCEE HGNC NCBI

Linked Data

gnomAD v4: 2-71124231-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124231C>G , CM000664.2:g.71124231C>G GRCh38
NC_000002.11:g.71351361C>G , CM000664.1:g.71351361C>G GRCh37
NC_000002.10:g.71204869C>G NCBI36
NG_008977.1:g.11034G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.353G>C MANE Select ENSP00000244217.5:p.Gly118Ala
ENST00000244217.5:c.353G>C ENSP00000244217.5:p.Gly118Ala
ENST00000413592.5:c.84+137G>C ENSP00000391140.1:n.84+137G>C
ENST00000486135.1:c.68G>C ENSP00000441569.1:p.Gly23Ala
ENST00000494660.6:c.68G>C ENSP00000437361.1:p.Gly23Ala
NM_032601.3:c.353G>C NP_115990.3:p.Gly118Ala
XM_005264613.2:c.216+137G>C XP_005264670.1:n.216+137G>C
XR_939729.1:n.422G>C
XR_939729.2:n.422G>C
NM_032601.4:c.353G>C MANE Select NP_115990.3:p.Gly118Ala