Canonical Allele Identifier: CA512757636
Gene: MCM3AP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47685897C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46265983C>G , CM000683.2:g.46265983C>G GRCh38
NC_000021.8:g.47685897C>G , CM000683.1:g.47685897C>G GRCh37
NC_000021.7:g.46510325C>G NCBI36
NG_033881.1:g.24340G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291688.6:c.2973G>C MANE Select ENSP00000291688.1:p.Gly991=
ENST00000291688.5:c.2973G>C ENSP00000291688.1:p.Gly991=
ENST00000397708.1:c.2973G>C ENSP00000380820.1:p.Gly991=
ENST00000486937.5:n.1265G>C
ENST00000496607.5:n.970G>C
NM_003906.4:c.2973G>C NP_003897.2:p.Gly991=
XM_005261203.3:c.2973G>C XP_005261260.1:p.Gly991=
XM_005261204.3:c.2973G>C XP_005261261.1:p.Gly991=
XM_005261205.2:c.2973G>C XP_005261262.1:p.Gly991=
XM_005261206.3:c.2973G>C XP_005261263.1:p.Gly991=
XM_006724064.2:c.2973G>C XP_006724127.1:p.Gly991=
XR_937577.1:n.3562G>C
XM_005261203.4:c.2973G>C XP_005261260.1:p.Gly991=
XM_005261204.5:c.2973G>C XP_005261261.1:p.Gly991=
XM_005261205.4:c.2973G>C XP_005261262.1:p.Gly991=
NM_003906.5:c.2973G>C MANE Select NP_003897.2:p.Gly991=