Canonical Allele Identifier: CA516681055
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs1557280313
gnomAD v2: X-50659107-T-C
gnomAD v4: X-50916107-T-C
MyVariant Identifiers: chrX:g.50659107T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916107T>C , CM000685.2:g.50916107T>C GRCh38
NC_000023.10:g.50659107T>C , CM000685.1:g.50659107T>C GRCh37
NC_000023.9:g.50675847T>C NCBI36
NG_012894.1:g.10324T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.679T>C MANE Select ENSP00000252677.3:p.Leu227=
ENST00000252677.3:c.679T>C ENSP00000252677.3:p.Leu227=
NM_005448.2:c.679T>C MANE Select NP_005439.2:p.Leu227=