Canonical Allele Identifier: CA10076663

Gene: MCM3AP

Linked Data

• ClinVar Variation Id: 2183878
• ClinVar RCV Id: RCV002627870
• dbSNP Id: rs761476531
• ExAC: 21:47685855 G / A
• gnomAD v2: 21-47685855-G-A
• gnomAD v3: 21-46265941-G-A
• gnomAD v4: 21-46265941-G-A
• MyVariant Identifiers: chr21:g.47685855G>A (hg19) ; chr21:g.46265941G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46265941G>A , CM000683.2:g.46265941G>A	GRCh38
NC_000021.8:g.47685855G>A , CM000683.1:g.47685855G>A	GRCh37
NC_000021.7:g.46510283G>A	NCBI36
NG_033881.1:g.24382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291688.6:c.3015C>T MANE Select	ENSP00000291688.1:p.Pro1005=
ENST00000291688.5:c.3015C>T	ENSP00000291688.1:p.Pro1005=
ENST00000397708.1:c.3015C>T	ENSP00000380820.1:p.Pro1005=
ENST00000486937.5:n.1307C>T
ENST00000496607.5:n.1012C>T
NM_003906.4:c.3015C>T	NP_003897.2:p.Pro1005=
XM_005261203.3:c.3015C>T	XP_005261260.1:p.Pro1005=
XM_005261204.3:c.3015C>T	XP_005261261.1:p.Pro1005=
XM_005261205.2:c.3015C>T	XP_005261262.1:p.Pro1005=
XM_005261206.3:c.3015C>T	XP_005261263.1:p.Pro1005=
XM_006724064.2:c.3015C>T	XP_006724127.1:p.Pro1005=
XR_937577.1:n.3604C>T
XM_005261203.4:c.3015C>T	XP_005261260.1:p.Pro1005=
XM_005261204.5:c.3015C>T	XP_005261261.1:p.Pro1005=
XM_005261205.4:c.3015C>T	XP_005261262.1:p.Pro1005=
NM_003906.5:c.3015C>T MANE Select	NP_003897.2:p.Pro1005=