Canonical Allele Identifier: CA10416554

Gene: BMP15

Linked Data

• ClinVar Variation Id: 914979
• ClinVar RCV Id: RCV001169400
• dbSNP Id: rs201058308
• ExAC: X:50658948 C / T
• gnomAD v2: X-50658948-C-T
• gnomAD v3: X-50915948-C-T
• gnomAD v4: X-50915948-C-T
• MyVariant Identifiers: chrX:g.50658948C>T (hg19) ; chrX:g.50915948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50915948C>T , CM000685.2:g.50915948C>T	GRCh38
NC_000023.10:g.50658948C>T , CM000685.1:g.50658948C>T	GRCh37
NC_000023.9:g.50675688C>T	NCBI36
NG_012894.1:g.10165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.520C>T MANE Select	ENSP00000252677.3:p.Pro174Ser
ENST00000252677.3:c.520C>T	ENSP00000252677.3:p.Pro174Ser
NM_005448.2:c.520C>T MANE Select	NP_005439.2:p.Pro174Ser