Canonical Allele Identifier: CA413197847

Gene: BMP15

Linked Data

• dbSNP Id: rs1243842126
• gnomAD v2: X-50658840-C-G
• gnomAD v4: X-50915840-C-G
• MyVariant Identifiers: chrX:g.50658840C>G (hg19) ; chrX:g.50915840C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50915840C>G , CM000685.2:g.50915840C>G	GRCh38
NC_000023.10:g.50658840C>G , CM000685.1:g.50658840C>G	GRCh37
NC_000023.9:g.50675580C>G	NCBI36
NG_012894.1:g.10057C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.412C>G MANE Select	ENSP00000252677.3:p.Arg138Gly
ENST00000252677.3:c.412C>G	ENSP00000252677.3:p.Arg138Gly
NM_005448.2:c.412C>G MANE Select	NP_005439.2:p.Arg138Gly