Canonical Allele Identifier: CA413197039

Gene: BMP15

Linked Data

• dbSNP Id: rs1328257784
• gnomAD v3: X-50910818-T-C
• gnomAD v4: X-50910818-T-C
• MyVariant Identifiers: chrX:g.50653818T>C (hg19) ; chrX:g.50910818T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50910818T>C , CM000685.2:g.50910818T>C	GRCh38
NC_000023.10:g.50653818T>C , CM000685.1:g.50653818T>C	GRCh37
NC_000023.9:g.50670558T>C	NCBI36
NG_012894.1:g.5035T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.35T>C MANE Select	ENSP00000252677.3:p.Leu12Pro
ENST00000252677.3:c.35T>C	ENSP00000252677.3:p.Leu12Pro
NM_005448.2:c.35T>C MANE Select	NP_005439.2:p.Leu12Pro