Canonical Allele Identifier: CA10432366
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs758890390
ExAC: X:63411914 C / T
gnomAD v2: X-63411914-C-T
gnomAD v3: X-64192034-C-T
gnomAD v4: X-64192034-C-T
COSMIC: COSM5472899 COSM5472900
MyVariant Identifiers: chrX:g.63411914C>T (hg19) chrX:g.64192034C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192034C>T , CM000685.2:g.64192034C>T GRCh38
NC_000023.10:g.63411914C>T , CM000685.1:g.63411914C>T GRCh37
NC_000023.9:g.63328639C>T NCBI36
NG_021345.1:g.18711G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1253G>A MANE Select ENSP00000364003.4:p.Arg418Gln
ENST00000330258.3:c.1253G>A ENSP00000329117.3:p.Arg418Gln
ENST00000374869.7:c.1253G>A ENSP00000364003.3:p.Arg418Gln
NM_152424.3:c.1253G>A NP_689637.3:p.Arg418Gln
XM_011530858.1:c.1253G>A XP_011529160.1:p.Arg418Gln
NM_152424.4:c.1253G>A MANE Select NP_689637.3:p.Arg418Gln
Search 100 bp 5'
Search 100 bp 3'