Canonical Allele Identifier: CA10416607

Gene: BMP15

Linked Data

• ClinVar Variation Id: 913022
• ClinVar RCV Id: RCV001166453 ; RCV003293912
• dbSNP Id: rs782269507
• ExAC: X:50659239 G / T
• gnomAD v2: X-50659239-G-T
• gnomAD v3: X-50916239-G-T
• gnomAD v4: X-50916239-G-T
• MyVariant Identifiers: chrX:g.50659239G>T (hg19) ; chrX:g.50916239G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916239G>T , CM000685.2:g.50916239G>T	GRCh38
NC_000023.10:g.50659239G>T , CM000685.1:g.50659239G>T	GRCh37
NC_000023.9:g.50675979G>T	NCBI36
NG_012894.1:g.10456G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.811G>T MANE Select	ENSP00000252677.3:p.Gly271Cys
ENST00000252677.3:c.811G>T	ENSP00000252677.3:p.Gly271Cys
NM_005448.2:c.811G>T MANE Select	NP_005439.2:p.Gly271Cys