Canonical Allele Identifier: CA413309778
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147089882
COSMIC: COSM6474766 COSM6474767
MyVariant Identifiers: chrX:g.63412430G>T (hg19) chrX:g.64192550G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192550G>T , CM000685.2:g.64192550G>T GRCh38
NC_000023.10:g.63412430G>T , CM000685.1:g.63412430G>T GRCh37
NC_000023.9:g.63329155G>T NCBI36
NG_021345.1:g.18195C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.737C>A MANE Select ENSP00000364003.4:p.Ser246Tyr
ENST00000330258.3:c.737C>A ENSP00000329117.3:p.Ser246Tyr
ENST00000374869.7:c.737C>A ENSP00000364003.3:p.Ser246Tyr
NM_152424.3:c.737C>A NP_689637.3:p.Ser246Tyr
XM_011530858.1:c.737C>A XP_011529160.1:p.Ser246Tyr
NM_152424.4:c.737C>A MANE Select NP_689637.3:p.Ser246Tyr
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