Canonical Allele Identifier: CA10432396
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2439015
ClinVar RCV Id: RCV003141350
dbSNP Id: rs374751715
ExAC: X:63412094 C / T
gnomAD v2: X-63412094-C-T
gnomAD v3: X-64192214-C-T
gnomAD v4: X-64192214-C-T
MyVariant Identifiers: chrX:g.63412094C>T (hg19) chrX:g.64192214C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192214C>T , CM000685.2:g.64192214C>T GRCh38
NC_000023.10:g.63412094C>T , CM000685.1:g.63412094C>T GRCh37
NC_000023.9:g.63328819C>T NCBI36
NG_021345.1:g.18531G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1073G>A MANE Select ENSP00000364003.4:p.Arg358Gln
ENST00000330258.3:c.1073G>A ENSP00000329117.3:p.Arg358Gln
ENST00000374869.7:c.1073G>A ENSP00000364003.3:p.Arg358Gln
NM_152424.3:c.1073G>A NP_689637.3:p.Arg358Gln
XM_011530858.1:c.1073G>A XP_011529160.1:p.Arg358Gln
NM_152424.4:c.1073G>A MANE Select NP_689637.3:p.Arg358Gln
Search 100 bp 5'
Search 100 bp 3'