Canonical Allele Identifier: CA156702
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133500
ClinVar RCV Id: RCV000120004 RCV000514474
dbSNP Id: rs35718712
ExAC: X:63412335 C / A
gnomAD v2: X-63412335-C-A
gnomAD v3: X-64192455-C-A
gnomAD v4: X-64192455-C-A
MyVariant Identifiers: chrX:g.63412335C>A (hg19) chrX:g.64192455C>A (hg38)
PubMed: PMID:24728327
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192455C>A , CM000685.2:g.64192455C>A GRCh38
NC_000023.10:g.63412335C>A , CM000685.1:g.63412335C>A GRCh37
NC_000023.9:g.63329060C>A NCBI36
NG_021345.1:g.18290G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.832G>T MANE Select ENSP00000364003.4:p.Ala278Ser
ENST00000330258.3:c.832G>T ENSP00000329117.3:p.Ala278Ser
ENST00000374869.7:c.832G>T ENSP00000364003.3:p.Ala278Ser
NM_152424.3:c.832G>T NP_689637.3:p.Ala278Ser
XM_011530858.1:c.832G>T XP_011529160.1:p.Ala278Ser
NM_152424.4:c.832G>T MANE Select NP_689637.3:p.Ala278Ser
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