Canonical Allele Identifier: CA14875581
Gene: MCM3AP HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.46270154C>T
GRCh37 chr21:g.47690068C>T
gnomAD v2:
21:47690068 C / T
gnomAD v3:
21:46270154 C / T
gnomAD v4:
chr21-46270154-C-T
Joint Max Group AF 0.4800273 (AMR)
Genomes Max Group AF 0.47272483 (AMR)
Exomes Max Group AF 0.4882818 (AMR)
dbSNP:
2839186
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46270154C>T , CM000683.2:g.46270154C>T GRCh38
NC_000021.8:g.47690068C>T , CM000683.1:g.47690068C>T GRCh37
NC_000021.7:g.46514496C>T NCBI36
NG_033881.1:g.20169G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291688.6:c.2628+247G>A MANE Select ENSP00000291688.1:n.2628+247G>A
ENST00000291688.5:c.2628+247G>A ENSP00000291688.1:n.2628+247G>A
ENST00000397708.1:c.2628+247G>A ENSP00000380820.1:n.2628+247G>A
NM_003906.4:c.2628+247G>A NP_003897.2:n.2628+247G>A
XM_005261203.3:c.2628+247G>A XP_005261260.1:n.2628+247G>A
XM_005261204.3:c.2628+247G>A XP_005261261.1:n.2628+247G>A
XM_005261205.2:c.2628+247G>A XP_005261262.1:n.2628+247G>A
XM_005261206.3:c.2628+247G>A XP_005261263.1:n.2628+247G>A
XM_006724064.2:c.2628+247G>A XP_006724127.1:n.2628+247G>A
XR_937577.1:n.3217+247G>A
XM_005261203.4:c.2628+247G>A XP_005261260.1:n.2628+247G>A
XM_005261204.5:c.2628+247G>A XP_005261261.1:n.2628+247G>A
XM_005261205.4:c.2628+247G>A XP_005261262.1:n.2628+247G>A
NM_003906.5:c.2628+247G>A MANE Select NP_003897.2:n.2628+247G>A
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