Canonical Allele Identifier: CA512757571
Gene: MCM3AP HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.47685870G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46265956G>A , CM000683.2:g.46265956G>A GRCh38
NC_000021.8:g.47685870G>A , CM000683.1:g.47685870G>A GRCh37
NC_000021.7:g.46510298G>A NCBI36
NG_033881.1:g.24367C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000291688.6:c.3000C>T MANE Select ENSP00000291688.1:p.Val1000=
ENST00000291688.5:c.3000C>T ENSP00000291688.1:p.Val1000=
ENST00000397708.1:c.3000C>T ENSP00000380820.1:p.Val1000=
ENST00000486937.5:n.1292C>T
ENST00000496607.5:n.997C>T
NM_003906.4:c.3000C>T NP_003897.2:p.Val1000=
XM_005261203.3:c.3000C>T XP_005261260.1:p.Val1000=
XM_005261204.3:c.3000C>T XP_005261261.1:p.Val1000=
XM_005261205.2:c.3000C>T XP_005261262.1:p.Val1000=
XM_005261206.3:c.3000C>T XP_005261263.1:p.Val1000=
XM_006724064.2:c.3000C>T XP_006724127.1:p.Val1000=
XR_937577.1:n.3589C>T
XM_005261203.4:c.3000C>T XP_005261260.1:p.Val1000=
XM_005261204.5:c.3000C>T XP_005261261.1:p.Val1000=
XM_005261205.4:c.3000C>T XP_005261262.1:p.Val1000=
NM_003906.5:c.3000C>T MANE Select NP_003897.2:p.Val1000=