Canonical Allele Identifier: CA10416473
Gene: BMP15 HGNC NCBI

Linked Data

ClinVar Variation Id: 2396286
ClinVar RCV Id: RCV002705026
dbSNP Id: rs782709183
ExAC: X:50653802 C / G
gnomAD v2: X-50653802-C-G
gnomAD v3: X-50910802-C-G
gnomAD v4: X-50910802-C-G
MyVariant Identifiers: chrX:g.50653802C>G (hg19) chrX:g.50910802C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50910802C>G , CM000685.2:g.50910802C>G GRCh38
NC_000023.10:g.50653802C>G , CM000685.1:g.50653802C>G GRCh37
NC_000023.9:g.50670542C>G NCBI36
NG_012894.1:g.5019C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.19C>G MANE Select ENSP00000252677.3:p.Leu7Val
ENST00000252677.3:c.19C>G ENSP00000252677.3:p.Leu7Val
NM_005448.2:c.19C>G MANE Select NP_005439.2:p.Leu7Val
Search 100 bp 5'
Search 100 bp 3'