Canonical Allele Identifier: CA413308309
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454631
ClinVar RCV Id: RCV001941964
dbSNP Id: rs1930260782
MyVariant Identifiers: chrX:g.63411987C>A (hg19) chrX:g.64192107C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192107C>A , CM000685.2:g.64192107C>A GRCh38
NC_000023.10:g.63411987C>A , CM000685.1:g.63411987C>A GRCh37
NC_000023.9:g.63328712C>A NCBI36
NG_021345.1:g.18638G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1180G>T MANE Select ENSP00000364003.4:p.Glu394Ter
ENST00000330258.3:c.1180G>T ENSP00000329117.3:p.Glu394Ter
ENST00000374869.7:c.1180G>T ENSP00000364003.3:p.Glu394Ter
NM_152424.3:c.1180G>T NP_689637.3:p.Glu394Ter
XM_011530858.1:c.1180G>T XP_011529160.1:p.Glu394Ter
NM_152424.4:c.1180G>T MANE Select NP_689637.3:p.Glu394Ter
Search 100 bp 5'
Search 100 bp 3'