Canonical Allele Identifier: CA311224085

Gene: MCM8

Linked Data

• dbSNP Id: rs538417319
• gnomAD v4: 20-5967669-A-G
• MyVariant Identifiers: chr20:g.5948315A>G (hg19) ; chr20:g.5967669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5967669A>G , CM000682.2:g.5967669A>G	GRCh38
NC_000020.10:g.5948315A>G , CM000682.1:g.5948315A>G	GRCh37
NC_000020.9:g.5896315A>G	NCBI36
NG_042869.1:g.22018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652720.1:c.1027+82A>G	ENSP00000498784.1:n.1027+82A>G
ENST00000265187.4:c.1027+82A>G	ENSP00000265187.4:n.1027+82A>G
ENST00000378883.5:c.1027+82A>G	ENSP00000368161.1:n.1027+82A>G
ENST00000378886.6:c.1027+82A>G	ENSP00000368164.2:n.1027+82A>G
ENST00000378896.7:c.1027+82A>G	ENSP00000368174.3:n.1027+82A>G
ENST00000610722.4:c.1027+82A>G MANE Select	ENSP00000478141.1:n.1027+82A>G
NM_001281520.1:c.1027+82A>G	NP_001268449.1:n.1027+82A>G
NM_001281521.1:c.1027+82A>G	NP_001268450.1:n.1027+82A>G
NM_001281522.1:c.1027+82A>G	NP_001268451.1:n.1027+82A>G
NM_032485.5:c.1027+82A>G	NP_115874.3:n.1027+82A>G
NM_182802.2:c.1027+82A>G	NP_877954.1:n.1027+82A>G
XM_011529387.1:c.1027+82A>G	XP_011527689.1:n.1027+82A>G
XR_937169.1:n.1367+82A>G
XM_011529387.2:c.1027+82A>G	XP_011527689.1:n.1027+82A>G
XM_017028105.1:c.1027+82A>G	XP_016883594.1:n.1027+82A>G
XM_017028106.1:c.835+82A>G	XP_016883595.1:n.835+82A>G
XM_017028107.1:c.178+82A>G	XP_016883596.1:n.178+82A>G
XR_001754422.1:n.1367+82A>G
XR_001754423.1:n.1367+82A>G
NM_032485.6:c.1027+82A>G MANE Select	NP_115874.3:n.1027+82A>G
NM_182802.3:c.1027+82A>G	NP_877954.1:n.1027+82A>G
NM_001281520.2:c.1027+82A>G	NP_001268449.1:n.1027+82A>G
NM_001281521.2:c.1027+82A>G	NP_001268450.1:n.1027+82A>G
NM_001281522.2:c.1027+82A>G	NP_001268451.1:n.1027+82A>G