Canonical Allele Identifier: CA413198130
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs1557280297
gnomAD v2: X-50658971-G-A
gnomAD v4: X-50915971-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50915971G>A , CM000685.2:g.50915971G>A GRCh38
NC_000023.10:g.50658971G>A , CM000685.1:g.50658971G>A GRCh37
NC_000023.9:g.50675711G>A NCBI36
NG_012894.1:g.10188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.543G>A MANE Select ENSP00000252677.3:p.Trp181Ter
ENST00000252677.3:c.543G>A ENSP00000252677.3:p.Trp181Ter
NM_005448.2:c.543G>A MANE Select NP_005439.2:p.Trp181Ter