Canonical Allele Identifier: CA10416611

Gene: BMP15

Linked Data

• dbSNP Id: rs782351070
• ExAC: X:50659276 A / C
• gnomAD v2: X-50659276-A-C
• MyVariant Identifiers: chrX:g.50659276A>C (hg19) ; chrX:g.50916276A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916276A>C , CM000685.2:g.50916276A>C	GRCh38
NC_000023.10:g.50659276A>C , CM000685.1:g.50659276A>C	GRCh37
NC_000023.9:g.50676016A>C	NCBI36
NG_012894.1:g.10493A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.848A>C MANE Select	ENSP00000252677.3:p.His283Pro
ENST00000252677.3:c.848A>C	ENSP00000252677.3:p.His283Pro
NM_005448.2:c.848A>C MANE Select	NP_005439.2:p.His283Pro