Canonical Allele Identifier: CA10416472

Gene: BMP15

Linked Data

• ClinVar Variation Id: 259774
• ClinVar RCV Id: RCV000252937 ; RCV000990825
• dbSNP Id: rs113099187
• ExAC: X:50653796 A / C
• gnomAD v2: X-50653796-A-C
• gnomAD v3: X-50910796-A-C
• gnomAD v4: X-50910796-A-C
• MyVariant Identifiers: chrX:g.50653796A>C (hg19) ; chrX:g.50910796A>C (hg38)
• PubMed: PMID:19486016

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50910796A>C , CM000685.2:g.50910796A>C	GRCh38
NC_000023.10:g.50653796A>C , CM000685.1:g.50653796A>C	GRCh37
NC_000023.9:g.50670536A>C	NCBI36
NG_012894.1:g.5013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.13A>C MANE Select	ENSP00000252677.3:p.Ser5Arg
ENST00000252677.3:c.13A>C	ENSP00000252677.3:p.Ser5Arg
NM_005448.2:c.13A>C MANE Select	NP_005439.2:p.Ser5Arg