Canonical Allele Identifier: CA10432408

Gene: AMER1

Linked Data

• ClinVar Variation Id: 1664793
• ClinVar RCV Id: RCV002191303 ; RCV002500404
• dbSNP Id: rs147299494
• ExAC: X:63412249 C / T
• gnomAD v2: X-63412249-C-T
• gnomAD v3: X-64192369-C-T
• gnomAD v4: X-64192369-C-T
• COSMIC: COSM5019706 ; COSM5019707
• MyVariant Identifiers: chrX:g.63412249C>T (hg19) ; chrX:g.64192369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64192369C>T , CM000685.2:g.64192369C>T	GRCh38
NC_000023.10:g.63412249C>T , CM000685.1:g.63412249C>T	GRCh37
NC_000023.9:g.63328974C>T	NCBI36
NG_021345.1:g.18376G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.918G>A MANE Select	ENSP00000364003.4:p.Gly306=
ENST00000330258.3:c.918G>A	ENSP00000329117.3:p.Gly306=
ENST00000374869.7:c.918G>A	ENSP00000364003.3:p.Gly306=
NM_152424.3:c.918G>A	NP_689637.3:p.Gly306=
XM_011530858.1:c.918G>A	XP_011529160.1:p.Gly306=
NM_152424.4:c.918G>A MANE Select	NP_689637.3:p.Gly306=