Canonical Allele Identifier: CA10416474
Gene: BMP15 HGNC NCBI

Linked Data

ClinVar Variation Id: 2326363
ClinVar RCV Id: RCV002920942
dbSNP Id: rs781806618
ExAC: X:50653806 G / T
gnomAD v2: X-50653806-G-T
gnomAD v4: X-50910806-G-T
COSMIC: COSM1184762
MyVariant Identifiers: chrX:g.50653806G>T (hg19) chrX:g.50910806G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50910806G>T , CM000685.2:g.50910806G>T GRCh38
NC_000023.10:g.50653806G>T , CM000685.1:g.50653806G>T GRCh37
NC_000023.9:g.50670546G>T NCBI36
NG_012894.1:g.5023G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.23G>T MANE Select ENSP00000252677.3:p.Arg8Ile
ENST00000252677.3:c.23G>T ENSP00000252677.3:p.Arg8Ile
NM_005448.2:c.23G>T MANE Select NP_005439.2:p.Arg8Ile
Search 100 bp 5'
Search 100 bp 3'