Canonical Allele Identifier: CA410561596

Gene: MCM3AP

Linked Data

• ClinVar Variation Id: 2428984
• ClinVar RCV Id: RCV003123225
• MyVariant Identifiers: chr21:g.47685956G>T (hg19) ; chr21:g.46266042G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46266042G>T , CM000683.2:g.46266042G>T	GRCh38
NC_000021.8:g.47685956G>T , CM000683.1:g.47685956G>T	GRCh37
NC_000021.7:g.46510384G>T	NCBI36
NG_033881.1:g.24281C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291688.6:c.2914C>A MANE Select	ENSP00000291688.1:p.Pro972Thr
ENST00000291688.5:c.2914C>A	ENSP00000291688.1:p.Pro972Thr
ENST00000397708.1:c.2914C>A	ENSP00000380820.1:p.Pro972Thr
ENST00000486937.5:n.1206C>A
ENST00000496607.5:n.911C>A
NM_003906.4:c.2914C>A	NP_003897.2:p.Pro972Thr
XM_005261203.3:c.2914C>A	XP_005261260.1:p.Pro972Thr
XM_005261204.3:c.2914C>A	XP_005261261.1:p.Pro972Thr
XM_005261205.2:c.2914C>A	XP_005261262.1:p.Pro972Thr
XM_005261206.3:c.2914C>A	XP_005261263.1:p.Pro972Thr
XM_006724064.2:c.2914C>A	XP_006724127.1:p.Pro972Thr
XR_937577.1:n.3503C>A
XM_005261203.4:c.2914C>A	XP_005261260.1:p.Pro972Thr
XM_005261204.5:c.2914C>A	XP_005261261.1:p.Pro972Thr
XM_005261205.4:c.2914C>A	XP_005261262.1:p.Pro972Thr
NM_003906.5:c.2914C>A MANE Select	NP_003897.2:p.Pro972Thr