Canonical Allele Identifier: CA10416513
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs781848548
ExAC: X:50654046 G / A
gnomAD v2: X-50654046-G-A
gnomAD v3: X-50911046-G-A
gnomAD v4: X-50911046-G-A
COSMIC: COSM1122775
MyVariant Identifiers: chrX:g.50654046G>A (hg19) chrX:g.50911046G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50911046G>A , CM000685.2:g.50911046G>A GRCh38
NC_000023.10:g.50654046G>A , CM000685.1:g.50654046G>A GRCh37
NC_000023.9:g.50670786G>A NCBI36
NG_012894.1:g.5263G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.263G>A MANE Select ENSP00000252677.3:p.Arg88His
ENST00000252677.3:c.263G>A ENSP00000252677.3:p.Arg88His
NM_005448.2:c.263G>A MANE Select NP_005439.2:p.Arg88His
Search 100 bp 5'
Search 100 bp 3'