Canonical Allele Identifier: CA408197024

Gene: MCM8

Linked Data

• dbSNP Id: rs1473128568
• gnomAD v2: 20-5948152-G-C
• gnomAD v3: 20-5967506-G-C
• gnomAD v4: 20-5967506-G-C
• MyVariant Identifiers: chr20:g.5948152G>C (hg19) ; chr20:g.5967506G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5967506G>C , CM000682.2:g.5967506G>C	GRCh38
NC_000020.10:g.5948152G>C , CM000682.1:g.5948152G>C	GRCh37
NC_000020.9:g.5896152G>C	NCBI36
NG_042869.1:g.21855G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652720.1:c.946G>C	ENSP00000498784.1:p.Val316Leu
ENST00000265187.4:c.946G>C	ENSP00000265187.4:p.Val316Leu
ENST00000378883.5:c.946G>C	ENSP00000368161.1:p.Val316Leu
ENST00000378886.6:c.946G>C	ENSP00000368164.2:p.Val316Leu
ENST00000378896.7:c.946G>C	ENSP00000368174.3:p.Val316Leu
ENST00000610722.4:c.946G>C MANE Select	ENSP00000478141.1:p.Val316Leu
NM_001281520.1:c.946G>C	NP_001268449.1:p.Val316Leu
NM_001281521.1:c.946G>C	NP_001268450.1:p.Val316Leu
NM_001281522.1:c.946G>C	NP_001268451.1:p.Val316Leu
NM_032485.5:c.946G>C	NP_115874.3:p.Val316Leu
NM_182802.2:c.946G>C	NP_877954.1:p.Val316Leu
XM_011529387.1:c.946G>C	XP_011527689.1:p.Val316Leu
XR_937169.1:n.1286G>C
XM_011529387.2:c.946G>C	XP_011527689.1:p.Val316Leu
XM_017028105.1:c.946G>C	XP_016883594.1:p.Val316Leu
XM_017028106.1:c.754G>C	XP_016883595.1:p.Val252Leu
XM_017028107.1:c.97G>C	XP_016883596.1:p.Val33Leu
XR_001754422.1:n.1286G>C
XR_001754423.1:n.1286G>C
NM_032485.6:c.946G>C MANE Select	NP_115874.3:p.Val316Leu
NM_182802.3:c.946G>C	NP_877954.1:p.Val316Leu
NM_001281520.2:c.946G>C	NP_001268449.1:p.Val316Leu
NM_001281521.2:c.946G>C	NP_001268450.1:p.Val316Leu
NM_001281522.2:c.946G>C	NP_001268451.1:p.Val316Leu