Canonical Allele Identifier: CA10416612

Gene: BMP15

Linked Data

• ClinVar Variation Id: 259777
• ClinVar RCV Id: RCV000245391 ; RCV000292718
• dbSNP Id: rs17003221
• ExAC: X:50659280 C / T
• gnomAD v2: X-50659280-C-T
• gnomAD v3: X-50916280-C-T
• gnomAD v4: X-50916280-C-T
• COSMIC: COSM5774366
• MyVariant Identifiers: chrX:g.50659280C>T (hg19) ; chrX:g.50916280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916280C>T , CM000685.2:g.50916280C>T	GRCh38
NC_000023.10:g.50659280C>T , CM000685.1:g.50659280C>T	GRCh37
NC_000023.9:g.50676020C>T	NCBI36
NG_012894.1:g.10497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.852C>T MANE Select	ENSP00000252677.3:p.Ser284=
ENST00000252677.3:c.852C>T	ENSP00000252677.3:p.Ser284=
NM_005448.2:c.852C>T MANE Select	NP_005439.2:p.Ser284=