Canonical Allele Identifier: CA517041280
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2799500
ClinVar RCV Id: RCV003668559
dbSNP Id: rs1930263520
COSMIC: COSM5530793 COSM5530794
MyVariant Identifiers: chrX:g.63412048G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192168G>A , CM000685.2:g.64192168G>A GRCh38
NC_000023.10:g.63412048G>A , CM000685.1:g.63412048G>A GRCh37
NC_000023.9:g.63328773G>A NCBI36
NG_021345.1:g.18577C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1119C>T MANE Select ENSP00000364003.4:p.Ala373=
ENST00000330258.3:c.1119C>T ENSP00000329117.3:p.Ala373=
ENST00000374869.7:c.1119C>T ENSP00000364003.3:p.Ala373=
NM_152424.3:c.1119C>T NP_689637.3:p.Ala373=
XM_011530858.1:c.1119C>T XP_011529160.1:p.Ala373=
NM_152424.4:c.1119C>T MANE Select NP_689637.3:p.Ala373=
Search 100 bp 5'
Search 100 bp 3'