Canonical Allele Identifier: CA9756665
Gene: MCM8 HGNC NCBI

Linked Data

dbSNP Id: rs16991615
gnomAD v2: 20-5948227-G-A
gnomAD v3: 20-5967581-G-A
gnomAD v4: 20-5967581-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5967581G>A , CM000682.2:g.5967581G>A GRCh38
NC_000020.10:g.5948227G>A , CM000682.1:g.5948227G>A GRCh37
NC_000020.9:g.5896227G>A NCBI36
NG_042869.1:g.21930G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000652720.1:c.1021G>A ENSP00000498784.1:p.Glu341Lys
ENST00000265187.4:c.1021G>A ENSP00000265187.4:p.Glu341Lys
ENST00000378883.5:c.1021G>A ENSP00000368161.1:p.Glu341Lys
ENST00000378886.6:c.1021G>A ENSP00000368164.2:p.Glu341Lys
ENST00000378896.7:c.1021G>A ENSP00000368174.3:p.Glu341Lys
ENST00000610722.4:c.1021G>A MANE Select ENSP00000478141.1:p.Glu341Lys
NM_001281520.1:c.1021G>A NP_001268449.1:p.Glu341Lys
NM_001281521.1:c.1021G>A NP_001268450.1:p.Glu341Lys
NM_001281522.1:c.1021G>A NP_001268451.1:p.Glu341Lys
NM_032485.5:c.1021G>A NP_115874.3:p.Glu341Lys
NM_182802.2:c.1021G>A NP_877954.1:p.Glu341Lys
XM_011529387.1:c.1021G>A XP_011527689.1:p.Glu341Lys
XR_937169.1:n.1361G>A
XM_011529387.2:c.1021G>A XP_011527689.1:p.Glu341Lys
XM_017028105.1:c.1021G>A XP_016883594.1:p.Glu341Lys
XM_017028106.1:c.829G>A XP_016883595.1:p.Glu277Lys
XM_017028107.1:c.172G>A XP_016883596.1:p.Glu58Lys
XR_001754422.1:n.1361G>A
XR_001754423.1:n.1361G>A
NM_032485.6:c.1021G>A MANE Select NP_115874.3:p.Glu341Lys
NM_182802.3:c.1021G>A NP_877954.1:p.Glu341Lys
NM_001281520.2:c.1021G>A NP_001268449.1:p.Glu341Lys
NM_001281521.2:c.1021G>A NP_001268450.1:p.Glu341Lys
NM_001281522.2:c.1021G>A NP_001268451.1:p.Glu341Lys