Canonical Allele Identifier: CA368451333
Gene: MCM7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100098598C>T , CM000669.2:g.100098598C>T GRCh38
NC_000007.13:g.99696221C>T , CM000669.1:g.99696221C>T GRCh37
NC_000007.12:g.99534157C>T NCBI36
NG_016312.1:g.2092C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000425308.6:c.379G>A ENSP00000411295.2:p.Glu127Lys
ENST00000485286.6:n.1312G>A
ENST00000489841.6:n.1421G>A
ENST00000710813.1:c.379G>A ENSP00000518500.1:p.Glu127Lys
ENST00000710814.1:c.379G>A ENSP00000518501.1:p.Glu127Lys
ENST00000710815.1:c.379G>A ENSP00000518502.1:p.Glu127Lys
ENST00000303887.10:c.700G>A MANE Select ENSP00000307288.5:p.Glu234Lys
ENST00000303887.9:c.700G>A ENSP00000307288.5:p.Glu234Lys
ENST00000343023.10:c.700G>A ENSP00000344006.6:p.Glu234Lys
ENST00000354230.7:c.172G>A ENSP00000346171.3:p.Glu58Lys
ENST00000425308.5:c.379G>A ENSP00000411295.1:p.Glu127Lys
ENST00000463722.5:n.1075G>A
ENST00000485286.5:n.1289G>A
ENST00000489841.5:n.851G>A
ENST00000491245.6:c.85+1055G>A
ENST00000621318.4:c.172G>A ENSP00000483795.1:p.Glu58Lys
NM_001278595.1:c.172G>A NP_001265524.1:p.Glu58Lys
NM_005916.4:c.700G>A NP_005907.3:p.Glu234Lys
NM_182776.2:c.172G>A NP_877577.1:p.Glu58Lys
XM_005250348.2:c.379G>A XP_005250405.1:p.Glu127Lys
XM_005250348.3:c.379G>A XP_005250405.1:p.Glu127Lys
XM_017012217.2:c.379G>A XP_016867706.1:p.Glu127Lys
NM_001278595.2:c.172G>A NP_001265524.1:p.Glu58Lys
NM_005916.5:c.700G>A MANE Select NP_005907.3:p.Glu234Lys
NM_182776.3:c.172G>A NP_877577.1:p.Glu58Lys