Canonical Allele Identifier: CA413197526
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs782519759
gnomAD v2: X-50654051-A-T
gnomAD v3: X-50911051-A-T
gnomAD v4: X-50911051-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50911051A>T , CM000685.2:g.50911051A>T GRCh38
NC_000023.10:g.50654051A>T , CM000685.1:g.50654051A>T GRCh37
NC_000023.9:g.50670791A>T NCBI36
NG_012894.1:g.5268A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.268A>T MANE Select ENSP00000252677.3:p.Ile90Phe
ENST00000252677.3:c.268A>T ENSP00000252677.3:p.Ile90Phe
NM_005448.2:c.268A>T MANE Select NP_005439.2:p.Ile90Phe