Canonical Allele Identifier: CA517041266
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs1441292406
gnomAD v2: X-63412405-G-A
gnomAD v3: X-64192525-G-A
gnomAD v4: X-64192525-G-A
COSMIC: COSM6474826 COSM6474827
MyVariant Identifiers: chrX:g.63412405G>A (hg19) chrX:g.64192525G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192525G>A , CM000685.2:g.64192525G>A GRCh38
NC_000023.10:g.63412405G>A , CM000685.1:g.63412405G>A GRCh37
NC_000023.9:g.63329130G>A NCBI36
NG_021345.1:g.18220C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.762C>T MANE Select ENSP00000364003.4:p.Ala254=
ENST00000330258.3:c.762C>T ENSP00000329117.3:p.Ala254=
ENST00000374869.7:c.762C>T ENSP00000364003.3:p.Ala254=
NM_152424.3:c.762C>T NP_689637.3:p.Ala254=
XM_011530858.1:c.762C>T XP_011529160.1:p.Ala254=
NM_152424.4:c.762C>T MANE Select NP_689637.3:p.Ala254=
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