Canonical Allele Identifier: CA10432418
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2015059
ClinVar RCV Id: RCV002839261
dbSNP Id: rs767958540
ExAC: X:63412312 A / G
gnomAD v2: X-63412312-A-G
gnomAD v4: X-64192432-A-G
MyVariant Identifiers: chrX:g.63412312A>G (hg19) chrX:g.64192432A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192432A>G , CM000685.2:g.64192432A>G GRCh38
NC_000023.10:g.63412312A>G , CM000685.1:g.63412312A>G GRCh37
NC_000023.9:g.63329037A>G NCBI36
NG_021345.1:g.18313T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.855T>C MANE Select ENSP00000364003.4:p.His285=
ENST00000330258.3:c.855T>C ENSP00000329117.3:p.His285=
ENST00000374869.7:c.855T>C ENSP00000364003.3:p.His285=
NM_152424.3:c.855T>C NP_689637.3:p.His285=
XM_011530858.1:c.855T>C XP_011529160.1:p.His285=
NM_152424.4:c.855T>C MANE Select NP_689637.3:p.His285=
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