Canonical Allele Identifier: CA13656603
Gene: MLXIP HGNC NCBI
gnomAD v2:
12:122630909 G / A
gnomAD v3:
12:122146362 G / A
gnomAD v4:
chr12-122146362-G-A
Joint Max Group AF 0.78437081 (NFE)
Genomes Max Group AF 0.78448034 (NFE)
Exomes Max Group AF 0.60205771 (NFE)
dbSNP:
1043763
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.122146362G>A , CM000674.2:g.122146362G>A GRCh38
NC_000012.11:g.122630909G>A , CM000674.1:g.122630909G>A GRCh37
NC_000012.10:g.121196862G>A NCBI36
NG_033995.1:g.72635G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319080.12:c.*4550G>A MANE Select ENSP00000312834.6:n.*4550G>A
ENST00000319080.11:c.*4550G>A ENSP00000312834.6:n.*4550G>A
NM_014938.5:c.*4550G>A NP_055753.3:n.*4550G>A
XM_006719290.4:c.*4542G>A XP_006719353.1:n.*4542G>A
XM_006719291.4:c.*4542G>A XP_006719354.1:n.*4542G>A
XM_006719294.4:c.*4542G>A XP_006719357.1:n.*4542G>A
XR_001748624.2:n.7170G>A
XR_944508.3:n.7295G>A
XR_944509.3:n.7298G>A
NM_014938.6:c.*4550G>A MANE Select NP_055753.3:n.*4550G>A
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