Canonical Allele Identifier: CA368451808
Gene: MCM7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100098654C>A , CM000669.2:g.100098654C>A GRCh38
NC_000007.13:g.99696277C>A , CM000669.1:g.99696277C>A GRCh37
NC_000007.12:g.99534213C>A NCBI36
NG_016312.1:g.2148C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000425308.6:c.323G>T ENSP00000411295.2:p.Arg108Leu
ENST00000485286.6:n.1256G>T
ENST00000489841.6:n.1365G>T
ENST00000710813.1:c.323G>T ENSP00000518500.1:p.Arg108Leu
ENST00000710814.1:c.323G>T ENSP00000518501.1:p.Arg108Leu
ENST00000710815.1:c.323G>T ENSP00000518502.1:p.Arg108Leu
ENST00000303887.10:c.644G>T MANE Select ENSP00000307288.5:p.Arg215Leu
ENST00000303887.9:c.644G>T ENSP00000307288.5:p.Arg215Leu
ENST00000343023.10:c.644G>T ENSP00000344006.6:p.Arg215Leu
ENST00000354230.7:c.116G>T ENSP00000346171.3:p.Arg39Leu
ENST00000425308.5:c.323G>T ENSP00000411295.1:p.Arg108Leu
ENST00000463722.5:n.1019G>T
ENST00000485286.5:n.1233G>T
ENST00000489841.5:n.795G>T
ENST00000491245.6:c.85+999G>T
ENST00000621318.4:c.116G>T ENSP00000483795.1:p.Arg39Leu
NM_001278595.1:c.116G>T NP_001265524.1:p.Arg39Leu
NM_005916.4:c.644G>T NP_005907.3:p.Arg215Leu
NM_182776.2:c.116G>T NP_877577.1:p.Arg39Leu
XM_005250348.2:c.323G>T XP_005250405.1:p.Arg108Leu
XM_005250348.3:c.323G>T XP_005250405.1:p.Arg108Leu
XM_017012217.2:c.323G>T XP_016867706.1:p.Arg108Leu
NM_001278595.2:c.116G>T NP_001265524.1:p.Arg39Leu
NM_005916.5:c.644G>T MANE Select NP_005907.3:p.Arg215Leu
NM_182776.3:c.116G>T NP_877577.1:p.Arg39Leu