Canonical Allele Identifier: CA16616950
Gene: MCM9 HGNC NCBI

Linked Data

ClinVar Variation Id: 417973
ClinVar RCV Id: RCV000477968
dbSNP Id: rs1060505058

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.118829093C>A , CM000668.2:g.118829093C>A GRCh38
NC_000006.11:g.119150256C>A , CM000668.1:g.119150256C>A GRCh37
NC_000006.10:g.119256948C>A NCBI36
NG_041822.1:g.111070G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000619706.5:c.1483G>T MANE Select ENSP00000480469.1:p.Glu495Ter
ENST00000316316.10:c.1483G>T ENSP00000314505.5:p.Glu495Ter
ENST00000368478.2:n.404G>T
ENST00000458674.2:c.161G>T
ENST00000505485.1:n.663G>T
ENST00000619706.4:c.1483G>T ENSP00000480469.1:p.Glu495Ter
NM_017696.2:c.1483G>T NP_060166.2:p.Glu495Ter
NM_001378356.1:c.1483G>T NP_001365285.1:p.Glu495Ter
NM_001378357.1:c.1483G>T NP_001365286.1:p.Glu495Ter
NM_001378359.1:c.1483G>T NP_001365288.1:p.Glu495Ter
NM_001378360.1:c.1483G>T NP_001365289.1:p.Glu495Ter
NM_001378364.1:c.1483G>T NP_001365293.1:p.Glu495Ter
NM_001378366.1:c.1357G>T NP_001365295.1:p.Glu453Ter
NM_001378367.1:c.1285G>T NP_001365296.1:p.Glu429Ter
NM_017696.3:c.1483G>T MANE Select NP_060166.2:p.Glu495Ter
NR_165493.1:n.1592G>T