Canonical Allele Identifier: CA10076686

Gene: MCM3AP

Linked Data

• ClinVar Variation Id: 403075
• ClinVar RCV Id: RCV000454481
• dbSNP Id: rs2839181
• ExAC: 21:47685939 A / G
• gnomAD v2: 21-47685939-A-G
• gnomAD v3: 21-46266025-A-G
• gnomAD v4: 21-46266025-A-G
• MyVariant Identifiers: chr21:g.47685939A>G (hg19) ; chr21:g.46266025A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46266025A>G , CM000683.2:g.46266025A>G	GRCh38
NC_000021.8:g.47685939A>G , CM000683.1:g.47685939A>G	GRCh37
NC_000021.7:g.46510367A>G	NCBI36
NG_033881.1:g.24298T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000291688.6:c.2931T>C MANE Select	ENSP00000291688.1:p.His977=
ENST00000291688.5:c.2931T>C	ENSP00000291688.1:p.His977=
ENST00000397708.1:c.2931T>C	ENSP00000380820.1:p.His977=
ENST00000486937.5:n.1223T>C
ENST00000496607.5:n.928T>C
NM_003906.4:c.2931T>C	NP_003897.2:p.His977=
XM_005261203.3:c.2931T>C	XP_005261260.1:p.His977=
XM_005261204.3:c.2931T>C	XP_005261261.1:p.His977=
XM_005261205.2:c.2931T>C	XP_005261262.1:p.His977=
XM_005261206.3:c.2931T>C	XP_005261263.1:p.His977=
XM_006724064.2:c.2931T>C	XP_006724127.1:p.His977=
XR_937577.1:n.3520T>C
XM_005261203.4:c.2931T>C	XP_005261260.1:p.His977=
XM_005261204.5:c.2931T>C	XP_005261261.1:p.His977=
XM_005261205.4:c.2931T>C	XP_005261262.1:p.His977=
NM_003906.5:c.2931T>C MANE Select	NP_003897.2:p.His977=