Canonical Allele Identifier: CA10416610
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs782073370
gnomAD v2: X-50659250-T-G
gnomAD v3: X-50916250-T-G
gnomAD v4: X-50916250-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916250T>G , CM000685.2:g.50916250T>G GRCh38
NC_000023.10:g.50659250T>G , CM000685.1:g.50659250T>G GRCh37
NC_000023.9:g.50675990T>G NCBI36
NG_012894.1:g.10467T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.822T>G MANE Select ENSP00000252677.3:p.Ala274=
ENST00000252677.3:c.822T>G ENSP00000252677.3:p.Ala274=
NM_005448.2:c.822T>G MANE Select NP_005439.2:p.Ala274=