Canonical Allele Identifier: CA410561278

Gene: MCM3AP

Linked Data

• gnomAD v4: 21-46265980-C-G
• MyVariant Identifiers: chr21:g.47685894C>G (hg19) ; chr21:g.46265980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46265980C>G , CM000683.2:g.46265980C>G	GRCh38
NC_000021.8:g.47685894C>G , CM000683.1:g.47685894C>G	GRCh37
NC_000021.7:g.46510322C>G	NCBI36
NG_033881.1:g.24343G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291688.6:c.2976G>C MANE Select	ENSP00000291688.1:p.Glu992Asp
ENST00000291688.5:c.2976G>C	ENSP00000291688.1:p.Glu992Asp
ENST00000397708.1:c.2976G>C	ENSP00000380820.1:p.Glu992Asp
ENST00000486937.5:n.1268G>C
ENST00000496607.5:n.973G>C
NM_003906.4:c.2976G>C	NP_003897.2:p.Glu992Asp
XM_005261203.3:c.2976G>C	XP_005261260.1:p.Glu992Asp
XM_005261204.3:c.2976G>C	XP_005261261.1:p.Glu992Asp
XM_005261205.2:c.2976G>C	XP_005261262.1:p.Glu992Asp
XM_005261206.3:c.2976G>C	XP_005261263.1:p.Glu992Asp
XM_006724064.2:c.2976G>C	XP_006724127.1:p.Glu992Asp
XR_937577.1:n.3565G>C
XM_005261203.4:c.2976G>C	XP_005261260.1:p.Glu992Asp
XM_005261204.5:c.2976G>C	XP_005261261.1:p.Glu992Asp
XM_005261205.4:c.2976G>C	XP_005261262.1:p.Glu992Asp
NM_003906.5:c.2976G>C MANE Select	NP_003897.2:p.Glu992Asp