Canonical Allele Identifier: CA10076666

Gene: MCM3AP

Linked Data

• ClinVar Variation Id: 2614871
• ClinVar RCV Id: RCV003365017
• dbSNP Id: rs138383169
• ExAC: 21:47685862 T / C
• gnomAD v2: 21-47685862-T-C
• gnomAD v3: 21-46265948-T-C
• gnomAD v4: 21-46265948-T-C
• MyVariant Identifiers: chr21:g.47685862T>C (hg19) ; chr21:g.46265948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46265948T>C , CM000683.2:g.46265948T>C	GRCh38
NC_000021.8:g.47685862T>C , CM000683.1:g.47685862T>C	GRCh37
NC_000021.7:g.46510290T>C	NCBI36
NG_033881.1:g.24375A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291688.6:c.3008A>G MANE Select	ENSP00000291688.1:p.Gln1003Arg
ENST00000291688.5:c.3008A>G	ENSP00000291688.1:p.Gln1003Arg
ENST00000397708.1:c.3008A>G	ENSP00000380820.1:p.Gln1003Arg
ENST00000486937.5:n.1300A>G
ENST00000496607.5:n.1005A>G
NM_003906.4:c.3008A>G	NP_003897.2:p.Gln1003Arg
XM_005261203.3:c.3008A>G	XP_005261260.1:p.Gln1003Arg
XM_005261204.3:c.3008A>G	XP_005261261.1:p.Gln1003Arg
XM_005261205.2:c.3008A>G	XP_005261262.1:p.Gln1003Arg
XM_005261206.3:c.3008A>G	XP_005261263.1:p.Gln1003Arg
XM_006724064.2:c.3008A>G	XP_006724127.1:p.Gln1003Arg
XR_937577.1:n.3597A>G
XM_005261203.4:c.3008A>G	XP_005261260.1:p.Gln1003Arg
XM_005261204.5:c.3008A>G	XP_005261261.1:p.Gln1003Arg
XM_005261205.4:c.3008A>G	XP_005261262.1:p.Gln1003Arg
NM_003906.5:c.3008A>G MANE Select	NP_003897.2:p.Gln1003Arg