Canonical Allele Identifier: CA10432086
Gene: AMER1 HGNC NCBI
ClinVar RCV:
RCV000933755
ClinVar Variation:
756273
dbSNP:
200157619
gnomAD v2:
X:63409894 C / T
gnomAD v3:
X:64190014 C / T
gnomAD v4:
chrX-64190014-C-T
Joint Max Group AF 0.00056795 (NFE)
Genomes Max Group AF 0.00032863 (NFE)
Exomes Max Group AF 0.00057508 (NFE)
MyVariant.info:
GRCh38 chrX:g.64190014C>T
GRCh37 chrX:g.63409894C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64190014C>T , CM000685.2:g.64190014C>T GRCh38
NC_000023.10:g.63409894C>T , CM000685.1:g.63409894C>T GRCh37
NC_000023.9:g.63326619C>T NCBI36
NG_021345.1:g.20731G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.3273G>A MANE Select ENSP00000364003.4:p.Arg1091=
ENST00000330258.3:c.3273G>A ENSP00000329117.3:p.Arg1091=
ENST00000374869.7:c.2357+916G>A ENSP00000364003.3:n.2357+916G>A
NM_152424.3:c.3273G>A NP_689637.3:p.Arg1091=
XM_011530858.1:c.3273G>A XP_011529160.1:p.Arg1091=
NM_152424.4:c.3273G>A MANE Select NP_689637.3:p.Arg1091=
Search 100 bp 5'
Search 100 bp 3'