Canonical Allele Identifier: CA413198796

Gene: BMP15

Linked Data

• dbSNP Id: rs1329023288
• gnomAD v3: X-50916272-A-G
• gnomAD v4: X-50916272-A-G
• MyVariant Identifiers: chrX:g.50659272A>G (hg19) ; chrX:g.50916272A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916272A>G , CM000685.2:g.50916272A>G	GRCh38
NC_000023.10:g.50659272A>G , CM000685.1:g.50659272A>G	GRCh37
NC_000023.9:g.50676012A>G	NCBI36
NG_012894.1:g.10489A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.844A>G MANE Select	ENSP00000252677.3:p.Lys282Glu
ENST00000252677.3:c.844A>G	ENSP00000252677.3:p.Lys282Glu
NM_005448.2:c.844A>G MANE Select	NP_005439.2:p.Lys282Glu