Canonical Allele Identifier: CA413198860
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs1557280346
gnomAD v2: X-50659300-G-A
gnomAD v4: X-50916300-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916300G>A , CM000685.2:g.50916300G>A GRCh38
NC_000023.10:g.50659300G>A , CM000685.1:g.50659300G>A GRCh37
NC_000023.9:g.50676040G>A NCBI36
NG_012894.1:g.10517G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.872G>A MANE Select ENSP00000252677.3:p.Cys291Tyr
ENST00000252677.3:c.872G>A ENSP00000252677.3:p.Cys291Tyr
NM_005448.2:c.872G>A MANE Select NP_005439.2:p.Cys291Tyr