Canonical Allele Identifier: CA10532545

Gene: MAGEC3

Linked Data

• ClinVar Variation Id: 779000
• ClinVar RCV Id: RCV000959742
• dbSNP Id: rs372869684
• ExAC: X:140967154 GCTACACCCTTTCCCTTC / G
• gnomAD v2: X-140967154-GCTACACCCTTTCCCTTC-G
• gnomAD v3: X-141879368-GCTACACCCTTTCCCTTC-G
• gnomAD v4: X-141879368-GCTACACCCTTTCCCTTC-G
• COSMIC: COSM5445792
• MyVariant Identifiers: chrX:g.140967155_140967171del (hg19) ; chrX:g.141879370_141879386del (hg38) ; chrX:g.141879369_141879385del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.141879371_141879387del , CM000685.2:g.141879371_141879387del	GRCh38
NC_000023.10:g.140967157_140967173del , CM000685.1:g.140967157_140967173del	GRCh37
NC_000023.9:g.140794823_140794839del	NCBI36
NG_013272.1:g.46056_46072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298296.1:c.455_471del MANE Select	ENSP00000298296.1:p.Tyr152CysfsTer29
NM_138702.1:c.455_471del MANE Select	NP_619647.1:p.Tyr152CysfsTer29