Canonical Allele Identifier: CA10391056
Gene: MAOB HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.43768752T>C
GRCh37 chrX:g.43627999T>C
gnomAD v2:
X:43627999 T / C
gnomAD v3:
X:43768752 T / C
gnomAD v4:
chrX-43768752-T-C
Joint Max Group AF 0.76836402 (AFR)
Genomes Max Group AF 0.75898722 (AFR)
Exomes Max Group AF 0.77412613 (AFR)
dbSNP:
1799836
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43768752T>C , CM000685.2:g.43768752T>C GRCh38
NC_000023.10:g.43627999T>C , CM000685.1:g.43627999T>C GRCh37
NC_000023.9:g.43512943T>C NCBI36
NG_008723.1:g.118723A>G
NG_008723.2:g.118724A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378069.5:c.1348-36A>G MANE Select ENSP00000367309.4:n.1348-36A>G
ENST00000378069.4:c.1348-36A>G ENSP00000367309.4:n.1348-36A>G
NM_000898.4:c.1348-36A>G NP_000889.3:n.1348-36A>G
XM_005272607.3:c.1300-36A>G XP_005272664.1:n.1300-36A>G
XM_005272608.2:c.1300-36A>G XP_005272665.1:n.1300-36A>G
XM_011543914.1:c.1210-36A>G XP_011542216.1:n.1210-36A>G
XM_005272608.3:c.1300-36A>G XP_005272665.1:n.1300-36A>G
XM_017029523.1:c.1300-36A>G XP_016885012.1:n.1300-36A>G
XM_017029524.2:c.1300-36A>G XP_016885013.1:n.1300-36A>G
NM_000898.5:c.1348-36A>G MANE Select NP_000889.3:n.1348-36A>G
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