Canonical Allele Identifier: CA413197451
Gene: BMP15 HGNC NCBI

Linked Data

gnomAD v4: X-50911016-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50911016C>A , CM000685.2:g.50911016C>A GRCh38
NC_000023.10:g.50654016C>A , CM000685.1:g.50654016C>A GRCh37
NC_000023.9:g.50670756C>A NCBI36
NG_012894.1:g.5233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.233C>A MANE Select ENSP00000252677.3:p.Ala78Asp
ENST00000252677.3:c.233C>A ENSP00000252677.3:p.Ala78Asp
NM_005448.2:c.233C>A MANE Select NP_005439.2:p.Ala78Asp