Canonical Allele Identifier: CA413197546
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs1557279939
gnomAD v2: X-50654061-C-A
gnomAD v4: X-50911061-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50911061C>A , CM000685.2:g.50911061C>A GRCh38
NC_000023.10:g.50654061C>A , CM000685.1:g.50654061C>A GRCh37
NC_000023.9:g.50670801C>A NCBI36
NG_012894.1:g.5278C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.278C>A MANE Select ENSP00000252677.3:p.Thr93Asn
ENST00000252677.3:c.278C>A ENSP00000252677.3:p.Thr93Asn
NM_005448.2:c.278C>A MANE Select NP_005439.2:p.Thr93Asn