Canonical Allele Identifier: CA10575764
Gene: VMA21 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.151405024G>C
GRCh37 chrX:g.150573496G>C
Revel Score:
ENST00000370361 0.418
ENST00000330374 (MANE Select) 0.418
ClinVar Allele:
205363
ClinVar RCV:
RCV000190830
ClinVar Variation:
208802
dbSNP:
878854354
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.151405024G>C , CM000685.2:g.151405024G>C GRCh38
NC_000023.10:g.150573496G>C , CM000685.1:g.150573496G>C GRCh37
NC_000023.9:g.150324154G>C NCBI36
NG_016761.1:g.12840G>C , LRG_860:g.12840G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330374.7:c.272G>C MANE Select ENSP00000333255.6:p.Gly91Ala
ENST00000330374.6:c.272G>C ENSP00000333255.6:p.Gly91Ala
ENST00000370361.5:c.437G>C ENSP00000359386.1:p.Gly146Ala
ENST00000477649.1:n.352G>C
NM_001017980.3:c.272G>C , LRG_860t1:c.272G>C NP_001017980.1:p.Gly91Ala
XM_011531125.1:c.437G>C XP_011529427.1:p.Gly146Ala
NM_001363810.1:c.437G>C NP_001350739.1:p.Gly146Ala
NM_001017980.4:c.272G>C MANE Select NP_001017980.1:p.Gly91Ala
Search 100 bp 5'
Search 100 bp 3'