Canonical Allele Identifier: CA10432383
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2170442
ClinVar RCV Id: RCV003095509
dbSNP Id: rs368719613
ExAC: X:63412014 C / G
gnomAD v2: X-63412014-C-G
gnomAD v3: X-64192134-C-G
gnomAD v4: X-64192134-C-G
MyVariant Identifiers: chrX:g.63412014C>G (hg19) chrX:g.64192134C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192134C>G , CM000685.2:g.64192134C>G GRCh38
NC_000023.10:g.63412014C>G , CM000685.1:g.63412014C>G GRCh37
NC_000023.9:g.63328739C>G NCBI36
NG_021345.1:g.18611G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1153G>C MANE Select ENSP00000364003.4:p.Glu385Gln
ENST00000330258.3:c.1153G>C ENSP00000329117.3:p.Glu385Gln
ENST00000374869.7:c.1153G>C ENSP00000364003.3:p.Glu385Gln
NM_152424.3:c.1153G>C NP_689637.3:p.Glu385Gln
XM_011530858.1:c.1153G>C XP_011529160.1:p.Glu385Gln
NM_152424.4:c.1153G>C MANE Select NP_689637.3:p.Glu385Gln
Search 100 bp 5'
Search 100 bp 3'