Canonical Allele Identifier: CA10432433
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 792933
ClinVar RCV Id: RCV000976080 RCV002503112 RCV003279173
dbSNP Id: rs149688443
ExAC: X:63412425 G / T
gnomAD v2: X-63412425-G-T
gnomAD v3: X-64192545-G-T
gnomAD v4: X-64192545-G-T
MyVariant Identifiers: chrX:g.63412425G>T (hg19) chrX:g.64192545G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192545G>T , CM000685.2:g.64192545G>T GRCh38
NC_000023.10:g.63412425G>T , CM000685.1:g.63412425G>T GRCh37
NC_000023.9:g.63329150G>T NCBI36
NG_021345.1:g.18200C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.742C>A MANE Select ENSP00000364003.4:p.Pro248Thr
ENST00000330258.3:c.742C>A ENSP00000329117.3:p.Pro248Thr
ENST00000374869.7:c.742C>A ENSP00000364003.3:p.Pro248Thr
NM_152424.3:c.742C>A NP_689637.3:p.Pro248Thr
XM_011530858.1:c.742C>A XP_011529160.1:p.Pro248Thr
NM_152424.4:c.742C>A MANE Select NP_689637.3:p.Pro248Thr
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