Canonical Allele Identifier: CA121147
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10707
ClinVar RCV Id: RCV000011453 RCV002266900
dbSNP Id: rs137852216
gnomAD v4: X-64192230-G-A
COSMIC: COSM28714 COSM296684
MyVariant Identifiers: chrX:g.63412110G>A (hg19) chrX:g.64192230G>A (hg38)
PubMed: PMID:19079258
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192230G>A , CM000685.2:g.64192230G>A GRCh38
NC_000023.10:g.63412110G>A , CM000685.1:g.63412110G>A GRCh37
NC_000023.9:g.63328835G>A NCBI36
NG_021345.1:g.18515C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374869.8:c.1057C>T MANE Select ENSP00000364003.4:p.Arg353Ter
ENST00000330258.3:c.1057C>T ENSP00000329117.3:p.Arg353Ter
ENST00000374869.7:c.1057C>T ENSP00000364003.3:p.Arg353Ter
NM_152424.3:c.1057C>T NP_689637.3:p.Arg353Ter
XM_011530858.1:c.1057C>T XP_011529160.1:p.Arg353Ter
NM_152424.4:c.1057C>T MANE Select NP_689637.3:p.Arg353Ter
Search 100 bp 5'
Search 100 bp 3'