Canonical Allele Identifier: CA413198431
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs1557280311
gnomAD v2: X-50659105-C-T
gnomAD v4: X-50916105-C-T
MyVariant Identifiers: chrX:g.50659105C>T (hg19) chrX:g.50916105C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916105C>T , CM000685.2:g.50916105C>T GRCh38
NC_000023.10:g.50659105C>T , CM000685.1:g.50659105C>T GRCh37
NC_000023.9:g.50675845C>T NCBI36
NG_012894.1:g.10322C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.677C>T MANE Select ENSP00000252677.3:p.Ser226Phe
ENST00000252677.3:c.677C>T ENSP00000252677.3:p.Ser226Phe
NM_005448.2:c.677C>T MANE Select NP_005439.2:p.Ser226Phe
Search 100 bp 5'
Search 100 bp 3'