Canonical Allele Identifier: CA413197833

Gene: BMP15

Linked Data

• dbSNP Id: rs1387861526
• gnomAD v2: X-50658834-G-A
• gnomAD v4: X-50915834-G-A
• MyVariant Identifiers: chrX:g.50658834G>A (hg19) ; chrX:g.50915834G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50915834G>A , CM000685.2:g.50915834G>A	GRCh38
NC_000023.10:g.50658834G>A , CM000685.1:g.50658834G>A	GRCh37
NC_000023.9:g.50675574G>A	NCBI36
NG_012894.1:g.10051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.406G>A MANE Select	ENSP00000252677.3:p.Val136Ile
ENST00000252677.3:c.406G>A	ENSP00000252677.3:p.Val136Ile
NM_005448.2:c.406G>A MANE Select	NP_005439.2:p.Val136Ile