Canonical Allele Identifier: CA413198580

Gene: BMP15

Linked Data

• dbSNP Id: rs1468822574
• gnomAD v3: X-50916170-T-C
• gnomAD v4: X-50916170-T-C
• MyVariant Identifiers: chrX:g.50659170T>C (hg19) ; chrX:g.50916170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916170T>C , CM000685.2:g.50916170T>C	GRCh38
NC_000023.10:g.50659170T>C , CM000685.1:g.50659170T>C	GRCh37
NC_000023.9:g.50675910T>C	NCBI36
NG_012894.1:g.10387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.742T>C MANE Select	ENSP00000252677.3:p.Phe248Leu
ENST00000252677.3:c.742T>C	ENSP00000252677.3:p.Phe248Leu
NM_005448.2:c.742T>C MANE Select	NP_005439.2:p.Phe248Leu