Canonical Allele Identifier: CA413198704

Gene: BMP15

Linked Data

• dbSNP Id: rs1923129983
• gnomAD v4: X-50916228-G-A
• COSMIC: COSM2967539
• MyVariant Identifiers: chrX:g.50659228G>A (hg19) ; chrX:g.50916228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916228G>A , CM000685.2:g.50916228G>A	GRCh38
NC_000023.10:g.50659228G>A , CM000685.1:g.50659228G>A	GRCh37
NC_000023.9:g.50675968G>A	NCBI36
NG_012894.1:g.10445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.800G>A MANE Select	ENSP00000252677.3:p.Arg267Gln
ENST00000252677.3:c.800G>A	ENSP00000252677.3:p.Arg267Gln
NM_005448.2:c.800G>A MANE Select	NP_005439.2:p.Arg267Gln