Canonical Allele Identifier: CA645615009
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10705
ClinVar RCV Id: RCV000011451
dbSNP Id: rs1569192251
COSMIC: COSM3093790 COSM3093791
MyVariant Identifiers: chrX:g.63412387dup (hg19) chrX:g.64192507dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192511dup , CM000685.2:g.64192511dup GRCh38
NC_000023.10:g.63412391dup , CM000685.1:g.63412391dup GRCh37
NC_000023.9:g.63329116dup NCBI36
NG_021345.1:g.18238dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.780dup MANE Select ENSP00000364003.4:p.Pro261ThrfsTer17
ENST00000330258.3:c.780dup ENSP00000329117.3:p.Pro261ThrfsTer17
ENST00000374869.7:c.780dup ENSP00000364003.3:p.Pro261ThrfsTer17
NM_152424.3:c.780dup NP_689637.3:p.Pro261ThrfsTer17
XM_011530858.1:c.780dup XP_011529160.1:p.Pro261ThrfsTer17
NM_152424.4:c.780dup MANE Select NP_689637.3:p.Pro261ThrfsTer17
Search 100 bp 5'
Search 100 bp 3'