Canonical Allele Identifier: CA413198876

Gene: BMP15

Linked Data

• dbSNP Id: rs1923133675
• gnomAD v3: X-50916308-C-A
• gnomAD v4: X-50916308-C-A
• MyVariant Identifiers: chrX:g.50659308C>A (hg19) ; chrX:g.50916308C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916308C>A , CM000685.2:g.50916308C>A	GRCh38
NC_000023.10:g.50659308C>A , CM000685.1:g.50659308C>A	GRCh37
NC_000023.9:g.50676048C>A	NCBI36
NG_012894.1:g.10525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.880C>A MANE Select	ENSP00000252677.3:p.His294Asn
ENST00000252677.3:c.880C>A	ENSP00000252677.3:p.His294Asn
NM_005448.2:c.880C>A MANE Select	NP_005439.2:p.His294Asn