Canonical Allele Identifier: CA517041328
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147089045
gnomAD v3: X-64192183-A-T
gnomAD v4: X-64192183-A-T
MyVariant Identifiers: chrX:g.63412063A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192183A>T , CM000685.2:g.64192183A>T GRCh38
NC_000023.10:g.63412063A>T , CM000685.1:g.63412063A>T GRCh37
NC_000023.9:g.63328788A>T NCBI36
NG_021345.1:g.18562T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1104T>A MANE Select ENSP00000364003.4:p.Gly368=
ENST00000330258.3:c.1104T>A ENSP00000329117.3:p.Gly368=
ENST00000374869.7:c.1104T>A ENSP00000364003.3:p.Gly368=
NM_152424.3:c.1104T>A NP_689637.3:p.Gly368=
XM_011530858.1:c.1104T>A XP_011529160.1:p.Gly368=
NM_152424.4:c.1104T>A MANE Select NP_689637.3:p.Gly368=