Canonical Allele Identifier: CA10416512
Gene: BMP15 HGNC NCBI

Linked Data

ClinVar Variation Id: 3134510
ClinVar RCV Id: RCV004431863
dbSNP Id: rs782731311
ExAC: X:50654045 C / T
gnomAD v2: X-50654045-C-T
gnomAD v3: X-50911045-C-T
gnomAD v4: X-50911045-C-T
MyVariant Identifiers: chrX:g.50654045C>T (hg19) chrX:g.50911045C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50911045C>T , CM000685.2:g.50911045C>T GRCh38
NC_000023.10:g.50654045C>T , CM000685.1:g.50654045C>T GRCh37
NC_000023.9:g.50670785C>T NCBI36
NG_012894.1:g.5262C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.262C>T MANE Select ENSP00000252677.3:p.Arg88Cys
ENST00000252677.3:c.262C>T ENSP00000252677.3:p.Arg88Cys
NM_005448.2:c.262C>T MANE Select NP_005439.2:p.Arg88Cys
Search 100 bp 5'
Search 100 bp 3'