Canonical Allele Identifier: CA10416479

Gene: BMP15

Linked Data

• dbSNP Id: rs138281369
• ExAC: X:50653829 G / T
• gnomAD v2: X-50653829-G-T
• gnomAD v3: X-50910829-G-T
• gnomAD v4: X-50910829-G-T
• MyVariant Identifiers: chrX:g.50653829G>T (hg19) ; chrX:g.50910829G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50910829G>T , CM000685.2:g.50910829G>T	GRCh38
NC_000023.10:g.50653829G>T , CM000685.1:g.50653829G>T	GRCh37
NC_000023.9:g.50670569G>T	NCBI36
NG_012894.1:g.5046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.46G>T MANE Select	ENSP00000252677.3:p.Val16Leu
ENST00000252677.3:c.46G>T	ENSP00000252677.3:p.Val16Leu
NM_005448.2:c.46G>T MANE Select	NP_005439.2:p.Val16Leu