Canonical Allele Identifier: CA10416490
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs782723118
gnomAD v2: X-50653910-C-T
gnomAD v3: X-50910910-C-T
gnomAD v4: X-50910910-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50910910C>T , CM000685.2:g.50910910C>T GRCh38
NC_000023.10:g.50653910C>T , CM000685.1:g.50653910C>T GRCh37
NC_000023.9:g.50670650C>T NCBI36
NG_012894.1:g.5127C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.127C>T MANE Select ENSP00000252677.3:p.Pro43Ser
ENST00000252677.3:c.127C>T ENSP00000252677.3:p.Pro43Ser
NM_005448.2:c.127C>T MANE Select NP_005439.2:p.Pro43Ser