Canonical Allele Identifier: CA512757987
Gene: MCM3AP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47686020C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46266106C>T , CM000683.2:g.46266106C>T GRCh38
NC_000021.8:g.47686020C>T , CM000683.1:g.47686020C>T GRCh37
NC_000021.7:g.46510448C>T NCBI36
NG_033881.1:g.24217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291688.6:c.2850G>A MANE Select ENSP00000291688.1:p.Lys950=
ENST00000291688.5:c.2850G>A ENSP00000291688.1:p.Lys950=
ENST00000397708.1:c.2850G>A ENSP00000380820.1:p.Lys950=
ENST00000486937.5:n.1142G>A
ENST00000496607.5:n.847G>A
NM_003906.4:c.2850G>A NP_003897.2:p.Lys950=
XM_005261203.3:c.2850G>A XP_005261260.1:p.Lys950=
XM_005261204.3:c.2850G>A XP_005261261.1:p.Lys950=
XM_005261205.2:c.2850G>A XP_005261262.1:p.Lys950=
XM_005261206.3:c.2850G>A XP_005261263.1:p.Lys950=
XM_006724064.2:c.2850G>A XP_006724127.1:p.Lys950=
XR_937577.1:n.3439G>A
XM_005261203.4:c.2850G>A XP_005261260.1:p.Lys950=
XM_005261204.5:c.2850G>A XP_005261261.1:p.Lys950=
XM_005261205.4:c.2850G>A XP_005261262.1:p.Lys950=
NM_003906.5:c.2850G>A MANE Select NP_003897.2:p.Lys950=