Canonical Allele Identifier: CA410562048

Gene: MCM3AP

Linked Data

• gnomAD v4: 21-46266115-C-A
• MyVariant Identifiers: chr21:g.47686029C>A (hg19) ; chr21:g.46266115C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46266115C>A , CM000683.2:g.46266115C>A	GRCh38
NC_000021.8:g.47686029C>A , CM000683.1:g.47686029C>A	GRCh37
NC_000021.7:g.46510457C>A	NCBI36
NG_033881.1:g.24208G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291688.6:c.2841G>T MANE Select	ENSP00000291688.1:p.Lys947Asn
ENST00000291688.5:c.2841G>T	ENSP00000291688.1:p.Lys947Asn
ENST00000397708.1:c.2841G>T	ENSP00000380820.1:p.Lys947Asn
ENST00000486937.5:n.1133G>T
ENST00000496607.5:n.838G>T
NM_003906.4:c.2841G>T	NP_003897.2:p.Lys947Asn
XM_005261203.3:c.2841G>T	XP_005261260.1:p.Lys947Asn
XM_005261204.3:c.2841G>T	XP_005261261.1:p.Lys947Asn
XM_005261205.2:c.2841G>T	XP_005261262.1:p.Lys947Asn
XM_005261206.3:c.2841G>T	XP_005261263.1:p.Lys947Asn
XM_006724064.2:c.2841G>T	XP_006724127.1:p.Lys947Asn
XR_937577.1:n.3430G>T
XM_005261203.4:c.2841G>T	XP_005261260.1:p.Lys947Asn
XM_005261204.5:c.2841G>T	XP_005261261.1:p.Lys947Asn
XM_005261205.4:c.2841G>T	XP_005261262.1:p.Lys947Asn
NM_003906.5:c.2841G>T MANE Select	NP_003897.2:p.Lys947Asn