Canonical Allele Identifier: CA413198782

Gene: BMP15

Linked Data

• COSMIC: COSM3844956
• MyVariant Identifiers: chrX:g.50659264C>T (hg19) ; chrX:g.50916264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916264C>T , CM000685.2:g.50916264C>T	GRCh38
NC_000023.10:g.50659264C>T , CM000685.1:g.50659264C>T	GRCh37
NC_000023.9:g.50676004C>T	NCBI36
NG_012894.1:g.10481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.836C>T MANE Select	ENSP00000252677.3:p.Ser279Phe
ENST00000252677.3:c.836C>T	ENSP00000252677.3:p.Ser279Phe
NM_005448.2:c.836C>T MANE Select	NP_005439.2:p.Ser279Phe