Canonical Allele Identifier: CA10076658

Gene: MCM3AP

Linked Data

• dbSNP Id: rs556850409
• ExAC: 21:47685839 C / T
• gnomAD v2: 21-47685839-C-T
• gnomAD v3: 21-46265925-C-T
• gnomAD v4: 21-46265925-C-T
• MyVariant Identifiers: chr21:g.47685839C>T (hg19) ; chr21:g.47685839_47685843delinsTCACT (hg19) ; chr21:g.46265925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46265925C>T , CM000683.2:g.46265925C>T	GRCh38
NC_000021.8:g.47685839C>T , CM000683.1:g.47685839C>T	GRCh37
NC_000021.7:g.46510267C>T	NCBI36
NG_033881.1:g.24398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291688.6:c.3031G>A MANE Select	ENSP00000291688.1:p.Gly1011Ser
ENST00000291688.5:c.3031G>A	ENSP00000291688.1:p.Gly1011Ser
ENST00000397708.1:c.3031G>A	ENSP00000380820.1:p.Gly1011Ser
ENST00000486937.5:n.1323G>A
ENST00000496607.5:n.1028G>A
NM_003906.4:c.3031G>A	NP_003897.2:p.Gly1011Ser
XM_005261203.3:c.3031G>A	XP_005261260.1:p.Gly1011Ser
XM_005261204.3:c.3031G>A	XP_005261261.1:p.Gly1011Ser
XM_005261205.2:c.3031G>A	XP_005261262.1:p.Gly1011Ser
XM_005261206.3:c.3031G>A	XP_005261263.1:p.Gly1011Ser
XM_006724064.2:c.3031G>A	XP_006724127.1:p.Gly1011Ser
XR_937577.1:n.3620G>A
XM_005261203.4:c.3031G>A	XP_005261260.1:p.Gly1011Ser
XM_005261204.5:c.3031G>A	XP_005261261.1:p.Gly1011Ser
XM_005261205.4:c.3031G>A	XP_005261262.1:p.Gly1011Ser
NM_003906.5:c.3031G>A MANE Select	NP_003897.2:p.Gly1011Ser