Canonical Allele Identifier: CA156704
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133501
ClinVar RCV Id: RCV000120005 RCV000894626 RCV000990847
dbSNP Id: rs138399473
ExAC: X:63413082 C / T
gnomAD v2: X-63413082-C-T
gnomAD v3: X-64193202-C-T
gnomAD v4: X-64193202-C-T
COSMIC: COSM28715
MyVariant Identifiers: chrX:g.63413082C>T (hg19) chrX:g.64193202C>T (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64193202C>T , CM000685.2:g.64193202C>T GRCh38
NC_000023.10:g.63413082C>T , CM000685.1:g.63413082C>T GRCh37
NC_000023.9:g.63329807C>T NCBI36
NG_021345.1:g.17543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.85G>A MANE Select ENSP00000364003.4:p.Ala29Thr
ENST00000330258.3:c.85G>A ENSP00000329117.3:p.Ala29Thr
ENST00000374869.7:c.85G>A ENSP00000364003.3:p.Ala29Thr
NM_152424.3:c.85G>A NP_689637.3:p.Ala29Thr
XM_011530858.1:c.85G>A XP_011529160.1:p.Ala29Thr
NM_152424.4:c.85G>A MANE Select NP_689637.3:p.Ala29Thr
Search 100 bp 5'
Search 100 bp 3'