Canonical Allele Identifier: CA10076668

Gene: MCM3AP

Linked Data

• ClinVar Variation Id: 1942745
• ClinVar RCV Id: RCV002675959
• dbSNP Id: rs753827602
• ExAC: 21:47685873 G / A
• gnomAD v2: 21-47685873-G-A
• gnomAD v3: 21-46265959-G-A
• gnomAD v4: 21-46265959-G-A
• MyVariant Identifiers: chr21:g.47685873G>A (hg19) ; chr21:g.46265959G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46265959G>A , CM000683.2:g.46265959G>A	GRCh38
NC_000021.8:g.47685873G>A , CM000683.1:g.47685873G>A	GRCh37
NC_000021.7:g.46510301G>A	NCBI36
NG_033881.1:g.24364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291688.6:c.2997C>T MANE Select	ENSP00000291688.1:p.Pro999=
ENST00000291688.5:c.2997C>T	ENSP00000291688.1:p.Pro999=
ENST00000397708.1:c.2997C>T	ENSP00000380820.1:p.Pro999=
ENST00000486937.5:n.1289C>T
ENST00000496607.5:n.994C>T
NM_003906.4:c.2997C>T	NP_003897.2:p.Pro999=
XM_005261203.3:c.2997C>T	XP_005261260.1:p.Pro999=
XM_005261204.3:c.2997C>T	XP_005261261.1:p.Pro999=
XM_005261205.2:c.2997C>T	XP_005261262.1:p.Pro999=
XM_005261206.3:c.2997C>T	XP_005261263.1:p.Pro999=
XM_006724064.2:c.2997C>T	XP_006724127.1:p.Pro999=
XR_937577.1:n.3586C>T
XM_005261203.4:c.2997C>T	XP_005261260.1:p.Pro999=
XM_005261204.5:c.2997C>T	XP_005261261.1:p.Pro999=
XM_005261205.4:c.2997C>T	XP_005261262.1:p.Pro999=
NM_003906.5:c.2997C>T MANE Select	NP_003897.2:p.Pro999=