Canonical Allele Identifier: CA516681143
Gene: BMP15 HGNC NCBI

Linked Data

gnomAD v4: X-50911059-C-T
MyVariant Identifiers: chrX:g.50654059C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50911059C>T , CM000685.2:g.50911059C>T GRCh38
NC_000023.10:g.50654059C>T , CM000685.1:g.50654059C>T GRCh37
NC_000023.9:g.50670799C>T NCBI36
NG_012894.1:g.5276C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.276C>T MANE Select ENSP00000252677.3:p.Ala92=
ENST00000252677.3:c.276C>T ENSP00000252677.3:p.Ala92=
NM_005448.2:c.276C>T MANE Select NP_005439.2:p.Ala92=