Canonical Allele Identifier: CA415271253
Gene: VMA21 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.151404975G>A
GRCh37 chrX:g.150573447G>A
Revel Score:
ENST00000370361 0.238
ENST00000330374 (MANE Select) 0.238
gnomAD v2:
X:150573447 G / A
gnomAD v4:
chrX-151404975-G-A
Joint Max Group AF 0.00003398 (SAS)
Exomes Max Group AF 0.00003542 (SAS)
ClinVar Allele:
939463
ClinVar RCV:
RCV001208862
RCV003238319
ClinVar Variation:
939455
dbSNP:
1464563401
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.151404975G>A , CM000685.2:g.151404975G>A GRCh38
NC_000023.10:g.150573447G>A , CM000685.1:g.150573447G>A GRCh37
NC_000023.9:g.150324105G>A NCBI36
NG_016761.1:g.12791G>A , LRG_860:g.12791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330374.7:c.223G>A MANE Select ENSP00000333255.6:p.Ala75Thr
ENST00000330374.6:c.223G>A ENSP00000333255.6:p.Ala75Thr
ENST00000370361.5:c.388G>A ENSP00000359386.1:p.Ala130Thr
ENST00000477649.1:n.303G>A
NM_001017980.3:c.223G>A , LRG_860t1:c.223G>A NP_001017980.1:p.Ala75Thr
XM_011531125.1:c.388G>A XP_011529427.1:p.Ala130Thr
NM_001363810.1:c.388G>A NP_001350739.1:p.Ala130Thr
NM_001017980.4:c.223G>A MANE Select NP_001017980.1:p.Ala75Thr
Search 100 bp 5'
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