Canonical Allele Identifier: CA10416500
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs369329828
gnomAD v2: X-50653971-T-A
gnomAD v3: X-50910971-T-A
gnomAD v4: X-50910971-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50910971T>A , CM000685.2:g.50910971T>A GRCh38
NC_000023.10:g.50653971T>A , CM000685.1:g.50653971T>A GRCh37
NC_000023.9:g.50670711T>A NCBI36
NG_012894.1:g.5188T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.188T>A MANE Select ENSP00000252677.3:p.Leu63Gln
ENST00000252677.3:c.188T>A ENSP00000252677.3:p.Leu63Gln
NM_005448.2:c.188T>A MANE Select NP_005439.2:p.Leu63Gln