Canonical Allele Identifier: CA10416614
Gene: BMP15 HGNC NCBI

Linked Data

ClinVar Variation Id: 2387785
ClinVar RCV Id: RCV002680513
dbSNP Id: rs141949448
ExAC: X:50659290 A / G
gnomAD v2: X-50659290-A-G
gnomAD v3: X-50916290-A-G
gnomAD v4: X-50916290-A-G
MyVariant Identifiers: chrX:g.50659290A>G (hg19) chrX:g.50916290A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916290A>G , CM000685.2:g.50916290A>G GRCh38
NC_000023.10:g.50659290A>G , CM000685.1:g.50659290A>G GRCh37
NC_000023.9:g.50676030A>G NCBI36
NG_012894.1:g.10507A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.862A>G MANE Select ENSP00000252677.3:p.Asn288Asp
ENST00000252677.3:c.862A>G ENSP00000252677.3:p.Asn288Asp
NM_005448.2:c.862A>G MANE Select NP_005439.2:p.Asn288Asp
Search 100 bp 5'
Search 100 bp 3'