Canonical Allele Identifier: CA10416612
Gene: BMP15 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.50916280C>T
GRCh37 chrX:g.50659280C>T
gnomAD v2:
X:50659280 C / T
gnomAD v3:
X:50916280 C / T
gnomAD v4:
chrX-50916280-C-T
Joint Max Group AF 0.44302441 (AFR)
Genomes Max Group AF 0.44010145 (AFR)
Exomes Max Group AF 0.44228602 (AFR)
ClinVar RCV:
RCV000245391
RCV000292718
ClinVar Variation:
259777
dbSNP:
17003221
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916280C>T , CM000685.2:g.50916280C>T GRCh38
NC_000023.10:g.50659280C>T , CM000685.1:g.50659280C>T GRCh37
NC_000023.9:g.50676020C>T NCBI36
NG_012894.1:g.10497C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.852C>T MANE Select ENSP00000252677.3:p.Ser284=
ENST00000252677.3:c.852C>T ENSP00000252677.3:p.Ser284=
NM_005448.2:c.852C>T MANE Select NP_005439.2:p.Ser284=
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