Canonical Allele Identifier: CA121501
Gene: BMP15 HGNC NCBI

Linked Data

ClinVar Variation Id: 11471
ClinVar RCV Id: RCV000012226 RCV001169399
dbSNP Id: rs104894766
ExAC: X:50654009 C / T
gnomAD v2: X-50654009-C-T
gnomAD v3: X-50911009-C-T
gnomAD v4: X-50911009-C-T
MyVariant Identifiers: chrX:g.50654009C>T (hg19) chrX:g.50911009C>T (hg38)
PubMed: PMID:16508750
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50911009C>T , CM000685.2:g.50911009C>T GRCh38
NC_000023.10:g.50654009C>T , CM000685.1:g.50654009C>T GRCh37
NC_000023.9:g.50670749C>T NCBI36
NG_012894.1:g.5226C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252677.4:c.226C>T MANE Select ENSP00000252677.3:p.Arg76Cys
ENST00000252677.3:c.226C>T ENSP00000252677.3:p.Arg76Cys
NM_005448.2:c.226C>T MANE Select NP_005439.2:p.Arg76Cys
Search 100 bp 5'
Search 100 bp 3'