Canonical Allele Identifier: CA413197463

Gene: BMP15

Linked Data

• gnomAD v4: X-50911021-T-G
• MyVariant Identifiers: chrX:g.50654021T>G (hg19) ; chrX:g.50911021T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50911021T>G , CM000685.2:g.50911021T>G	GRCh38
NC_000023.10:g.50654021T>G , CM000685.1:g.50654021T>G	GRCh37
NC_000023.9:g.50670761T>G	NCBI36
NG_012894.1:g.5238T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.238T>G MANE Select	ENSP00000252677.3:p.Ser80Ala
ENST00000252677.3:c.238T>G	ENSP00000252677.3:p.Ser80Ala
NM_005448.2:c.238T>G MANE Select	NP_005439.2:p.Ser80Ala