Canonical Allele Identifier: CA410561322

Gene: MCM3AP

Linked Data

• gnomAD v4: 21-46265986-G-C
• MyVariant Identifiers: chr21:g.47685900G>C (hg19) ; chr21:g.46265986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46265986G>C , CM000683.2:g.46265986G>C	GRCh38
NC_000021.8:g.47685900G>C , CM000683.1:g.47685900G>C	GRCh37
NC_000021.7:g.46510328G>C	NCBI36
NG_033881.1:g.24337C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291688.6:c.2970C>G MANE Select	ENSP00000291688.1:p.Ile990Met
ENST00000291688.5:c.2970C>G	ENSP00000291688.1:p.Ile990Met
ENST00000397708.1:c.2970C>G	ENSP00000380820.1:p.Ile990Met
ENST00000486937.5:n.1262C>G
ENST00000496607.5:n.967C>G
NM_003906.4:c.2970C>G	NP_003897.2:p.Ile990Met
XM_005261203.3:c.2970C>G	XP_005261260.1:p.Ile990Met
XM_005261204.3:c.2970C>G	XP_005261261.1:p.Ile990Met
XM_005261205.2:c.2970C>G	XP_005261262.1:p.Ile990Met
XM_005261206.3:c.2970C>G	XP_005261263.1:p.Ile990Met
XM_006724064.2:c.2970C>G	XP_006724127.1:p.Ile990Met
XR_937577.1:n.3559C>G
XM_005261203.4:c.2970C>G	XP_005261260.1:p.Ile990Met
XM_005261204.5:c.2970C>G	XP_005261261.1:p.Ile990Met
XM_005261205.4:c.2970C>G	XP_005261262.1:p.Ile990Met
NM_003906.5:c.2970C>G MANE Select	NP_003897.2:p.Ile990Met