Canonical Allele Identifier: CA413198486

Gene: BMP15

Linked Data

• gnomAD v4: X-50916129-T-A
• MyVariant Identifiers: chrX:g.50659129T>A (hg19) ; chrX:g.50916129T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916129T>A , CM000685.2:g.50916129T>A	GRCh38
NC_000023.10:g.50659129T>A , CM000685.1:g.50659129T>A	GRCh37
NC_000023.9:g.50675869T>A	NCBI36
NG_012894.1:g.10346T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.701T>A MANE Select	ENSP00000252677.3:p.Leu234His
ENST00000252677.3:c.701T>A	ENSP00000252677.3:p.Leu234His
NM_005448.2:c.701T>A MANE Select	NP_005439.2:p.Leu234His