Canonical Allele Identifier: CA413198768

Gene: BMP15

Linked Data

• dbSNP Id: rs1557280339
• gnomAD v2: X-50659258-C-T
• gnomAD v4: X-50916258-C-T
• MyVariant Identifiers: chrX:g.50659258C>T (hg19) ; chrX:g.50916258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916258C>T , CM000685.2:g.50916258C>T	GRCh38
NC_000023.10:g.50659258C>T , CM000685.1:g.50659258C>T	GRCh37
NC_000023.9:g.50675998C>T	NCBI36
NG_012894.1:g.10475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.830C>T MANE Select	ENSP00000252677.3:p.Thr277Ile
ENST00000252677.3:c.830C>T	ENSP00000252677.3:p.Thr277Ile
NM_005448.2:c.830C>T MANE Select	NP_005439.2:p.Thr277Ile