Canonical Allele Identifier: CA413198716
Gene: BMP15 HGNC NCBI

Linked Data

gnomAD v4: X-50916233-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916233G>A , CM000685.2:g.50916233G>A GRCh38
NC_000023.10:g.50659233G>A , CM000685.1:g.50659233G>A GRCh37
NC_000023.9:g.50675973G>A NCBI36
NG_012894.1:g.10450G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.805G>A MANE Select ENSP00000252677.3:p.Ala269Thr
ENST00000252677.3:c.805G>A ENSP00000252677.3:p.Ala269Thr
NM_005448.2:c.805G>A MANE Select NP_005439.2:p.Ala269Thr