Canonical Allele Identifier: CA413198798

Gene: BMP15

Linked Data

• dbSNP Id: rs1308166831
• gnomAD v4: X-50916273-A-C
• MyVariant Identifiers: chrX:g.50659273A>C (hg19) ; chrX:g.50916273A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50916273A>C , CM000685.2:g.50916273A>C	GRCh38
NC_000023.10:g.50659273A>C , CM000685.1:g.50659273A>C	GRCh37
NC_000023.9:g.50676013A>C	NCBI36
NG_012894.1:g.10490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.845A>C MANE Select	ENSP00000252677.3:p.Lys282Thr
ENST00000252677.3:c.845A>C	ENSP00000252677.3:p.Lys282Thr
NM_005448.2:c.845A>C MANE Select	NP_005439.2:p.Lys282Thr