Canonical Allele Identifier: CA121506
Gene: BMP15 HGNC NCBI

Linked Data

ClinVar Variation Id: 11474
dbSNP Id: rs104894763
gnomAD v2: X-50653985-C-T
gnomAD v3: X-50910985-C-T
gnomAD v4: X-50910985-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50910985C>T , CM000685.2:g.50910985C>T GRCh38
NC_000023.10:g.50653985C>T , CM000685.1:g.50653985C>T GRCh37
NC_000023.9:g.50670725C>T NCBI36
NG_012894.1:g.5202C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252677.4:c.202C>T MANE Select ENSP00000252677.3:p.Arg68Trp
ENST00000252677.3:c.202C>T ENSP00000252677.3:p.Arg68Trp
NM_005448.2:c.202C>T MANE Select NP_005439.2:p.Arg68Trp