Canonical Allele Identifier: CA10432393
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 722641
ClinVar RCV Id: RCV000896307 RCV003910676
dbSNP Id: rs147491414
ExAC: X:63412075 G / A
gnomAD v2: X-63412075-G-A
gnomAD v3: X-64192195-G-A
gnomAD v4: X-64192195-G-A
MyVariant Identifiers: chrX:g.63412075G>A (hg19) chrX:g.64192195G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192195G>A , CM000685.2:g.64192195G>A GRCh38
NC_000023.10:g.63412075G>A , CM000685.1:g.63412075G>A GRCh37
NC_000023.9:g.63328800G>A NCBI36
NG_021345.1:g.18550C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1092C>T MANE Select ENSP00000364003.4:p.Thr364=
ENST00000330258.3:c.1092C>T ENSP00000329117.3:p.Thr364=
ENST00000374869.7:c.1092C>T ENSP00000364003.3:p.Thr364=
NM_152424.3:c.1092C>T NP_689637.3:p.Thr364=
XM_011530858.1:c.1092C>T XP_011529160.1:p.Thr364=
NM_152424.4:c.1092C>T MANE Select NP_689637.3:p.Thr364=
Search 100 bp 5'
Search 100 bp 3'