Canonical Allele Identifier: CA156704

Gene: AMER1

Linked Data

• ClinVar Variation Id: 133501
• ClinVar RCV Id: RCV000120005 ; RCV000894626 ; RCV000990847
• dbSNP Id: rs138399473
• ExAC: X:63413082 C / T
• gnomAD v2: X-63413082-C-T
• gnomAD v3: X-64193202-C-T
• gnomAD v4: X-64193202-C-T
• COSMIC: COSM28715
• MyVariant Identifiers: chrX:g.63413082C>T (hg19) ; chrX:g.64193202C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64193202C>T , CM000685.2:g.64193202C>T	GRCh38
NC_000023.10:g.63413082C>T , CM000685.1:g.63413082C>T	GRCh37
NC_000023.9:g.63329807C>T	NCBI36
NG_021345.1:g.17543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374869.8:c.85G>A MANE Select	ENSP00000364003.4:p.Ala29Thr
ENST00000330258.3:c.85G>A	ENSP00000329117.3:p.Ala29Thr
ENST00000374869.7:c.85G>A	ENSP00000364003.3:p.Ala29Thr
NM_152424.3:c.85G>A	NP_689637.3:p.Ala29Thr
XM_011530858.1:c.85G>A	XP_011529160.1:p.Ala29Thr
NM_152424.4:c.85G>A MANE Select	NP_689637.3:p.Ala29Thr