Canonical Allele Identifier: CA413198718
Gene: BMP15 HGNC NCBI

Linked Data

ClinVar Variation Id: 2557507
ClinVar RCV Id: RCV003309485
MyVariant Identifiers: chrX:g.50659234C>A (hg19) chrX:g.50916234C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916234C>A , CM000685.2:g.50916234C>A GRCh38
NC_000023.10:g.50659234C>A , CM000685.1:g.50659234C>A GRCh37
NC_000023.9:g.50675974C>A NCBI36
NG_012894.1:g.10451C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.806C>A MANE Select ENSP00000252677.3:p.Ala269Glu
ENST00000252677.3:c.806C>A ENSP00000252677.3:p.Ala269Glu
NM_005448.2:c.806C>A MANE Select NP_005439.2:p.Ala269Glu
Search 100 bp 5'
Search 100 bp 3'