Canonical Allele Identifier: CA156706

Gene: AMER1

Linked Data

• ClinVar Variation Id: 133502
• ClinVar RCV Id: RCV000120006 ; RCV000958320
• dbSNP Id: rs138948924
• ExAC: X:63412291 C / G
• gnomAD v2: X-63412291-C-G
• gnomAD v3: X-64192411-C-G
• gnomAD v4: X-64192411-C-G
• COSMIC: COSM22958
• MyVariant Identifiers: chrX:g.63412291C>G (hg19) ; chrX:g.64192411C>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.64192411C>G , CM000685.2:g.64192411C>G	GRCh38
NC_000023.10:g.63412291C>G , CM000685.1:g.63412291C>G	GRCh37
NC_000023.9:g.63329016C>G	NCBI36
NG_021345.1:g.18334G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374869.8:c.876G>C MANE Select	ENSP00000364003.4:p.Lys292Asn
ENST00000330258.3:c.876G>C	ENSP00000329117.3:p.Lys292Asn
ENST00000374869.7:c.876G>C	ENSP00000364003.3:p.Lys292Asn
NM_152424.3:c.876G>C	NP_689637.3:p.Lys292Asn
XM_011530858.1:c.876G>C	XP_011529160.1:p.Lys292Asn
NM_152424.4:c.876G>C MANE Select	NP_689637.3:p.Lys292Asn