Canonical Allele Identifier: CA329957567
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3008968
ClinVar RCV Id: RCV003862095
dbSNP Id: rs139477886
gnomAD v2: X-63412403-C-T
gnomAD v4: X-64192523-C-T
COSMIC: COSM4682475 COSM4682476
MyVariant Identifiers: chrX:g.63412403C>T (hg19) chrX:g.64192523C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192523C>T , CM000685.2:g.64192523C>T GRCh38
NC_000023.10:g.63412403C>T , CM000685.1:g.63412403C>T GRCh37
NC_000023.9:g.63329128C>T NCBI36
NG_021345.1:g.18222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.764G>A MANE Select ENSP00000364003.4:p.Cys255Tyr
ENST00000330258.3:c.764G>A ENSP00000329117.3:p.Cys255Tyr
ENST00000374869.7:c.764G>A ENSP00000364003.3:p.Cys255Tyr
NM_152424.3:c.764G>A NP_689637.3:p.Cys255Tyr
XM_011530858.1:c.764G>A XP_011529160.1:p.Cys255Tyr
NM_152424.4:c.764G>A MANE Select NP_689637.3:p.Cys255Tyr
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