Canonical Allele Identifier: CA413197591
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs1393345406
gnomAD v2: X-50654081-C-T
gnomAD v3: X-50911081-C-T
gnomAD v4: X-50911081-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50911081C>T , CM000685.2:g.50911081C>T GRCh38
NC_000023.10:g.50654081C>T , CM000685.1:g.50654081C>T GRCh37
NC_000023.9:g.50670821C>T NCBI36
NG_012894.1:g.5298C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.298C>T MANE Select ENSP00000252677.3:p.Pro100Ser
ENST00000252677.3:c.298C>T ENSP00000252677.3:p.Pro100Ser
NM_005448.2:c.298C>T MANE Select NP_005439.2:p.Pro100Ser