Canonical Allele Identifier: CA10416514
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs782519759
gnomAD v2: X-50654051-A-G
gnomAD v4: X-50911051-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50911051A>G , CM000685.2:g.50911051A>G GRCh38
NC_000023.10:g.50654051A>G , CM000685.1:g.50654051A>G GRCh37
NC_000023.9:g.50670791A>G NCBI36
NG_012894.1:g.5268A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.268A>G MANE Select ENSP00000252677.3:p.Ile90Val
ENST00000252677.3:c.268A>G ENSP00000252677.3:p.Ile90Val
NM_005448.2:c.268A>G MANE Select NP_005439.2:p.Ile90Val