Canonical Allele Identifier: CA365550926

Gene: MCM9

Linked Data

• dbSNP Id: rs1774273038
• gnomAD v4: 6-118827938-C-T
• MyVariant Identifiers: chr6:g.119149101C>T (hg19) ; chr6:g.118827938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118827938C>T , CM000668.2:g.118827938C>T	GRCh38
NC_000006.11:g.119149101C>T , CM000668.1:g.119149101C>T	GRCh37
NC_000006.10:g.119255793C>T	NCBI36
NG_041822.1:g.112225G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619706.5:c.1721G>A MANE Select	ENSP00000480469.1:p.Arg574Gln
ENST00000316316.10:c.1721G>A	ENSP00000314505.5:p.Arg574Gln
ENST00000458674.2:c.207-1074G>A
ENST00000619706.4:c.1721G>A	ENSP00000480469.1:p.Arg574Gln
NM_017696.2:c.1721G>A	NP_060166.2:p.Arg574Gln
NM_001378356.1:c.1721G>A	NP_001365285.1:p.Arg574Gln
NM_001378357.1:c.1721G>A	NP_001365286.1:p.Arg574Gln
NM_001378359.1:c.1721G>A	NP_001365288.1:p.Arg574Gln
NM_001378360.1:c.1721G>A	NP_001365289.1:p.Arg574Gln
NM_001378364.1:c.1529-1074G>A	NP_001365293.1:n.1529-1074G>A
NM_001378366.1:c.1595G>A	NP_001365295.1:p.Arg532Gln
NM_001378367.1:c.1523G>A	NP_001365296.1:p.Arg508Gln
NM_017696.3:c.1721G>A MANE Select	NP_060166.2:p.Arg574Gln
NR_165493.1:n.1830G>A