Canonical Allele Identifier: CA413197317

Gene: BMP15

Linked Data

• ClinVar Variation Id: 2078651
• ClinVar RCV Id: RCV002988745
• gnomAD v4: X-50910949-C-T
• MyVariant Identifiers: chrX:g.50653949C>T (hg19) ; chrX:g.50910949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50910949C>T , CM000685.2:g.50910949C>T	GRCh38
NC_000023.10:g.50653949C>T , CM000685.1:g.50653949C>T	GRCh37
NC_000023.9:g.50670689C>T	NCBI36
NG_012894.1:g.5166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.166C>T MANE Select	ENSP00000252677.3:p.Gln56Ter
ENST00000252677.3:c.166C>T	ENSP00000252677.3:p.Gln56Ter
NM_005448.2:c.166C>T MANE Select	NP_005439.2:p.Gln56Ter