Canonical Allele Identifier: CA329809800
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs960124206
gnomAD v3: X-50916255-T-C
gnomAD v4: X-50916255-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916255T>C , CM000685.2:g.50916255T>C GRCh38
NC_000023.10:g.50659255T>C , CM000685.1:g.50659255T>C GRCh37
NC_000023.9:g.50675995T>C NCBI36
NG_012894.1:g.10472T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.827T>C MANE Select ENSP00000252677.3:p.Val276Ala
ENST00000252677.3:c.827T>C ENSP00000252677.3:p.Val276Ala
NM_005448.2:c.827T>C MANE Select NP_005439.2:p.Val276Ala