Canonical Allele Identifier: CA329957584
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2660743
ClinVar RCV Id: RCV003438416
dbSNP Id: rs925572949
gnomAD v4: X-64192527-C-T
MyVariant Identifiers: chrX:g.63412407C>T (hg19) chrX:g.64192527C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192527C>T , CM000685.2:g.64192527C>T GRCh38
NC_000023.10:g.63412407C>T , CM000685.1:g.63412407C>T GRCh37
NC_000023.9:g.63329132C>T NCBI36
NG_021345.1:g.18218G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.760G>A MANE Select ENSP00000364003.4:p.Ala254Thr
ENST00000330258.3:c.760G>A ENSP00000329117.3:p.Ala254Thr
ENST00000374869.7:c.760G>A ENSP00000364003.3:p.Ala254Thr
NM_152424.3:c.760G>A NP_689637.3:p.Ala254Thr
XM_011530858.1:c.760G>A XP_011529160.1:p.Ala254Thr
NM_152424.4:c.760G>A MANE Select NP_689637.3:p.Ala254Thr
Search 100 bp 5'
Search 100 bp 3'