Canonical Allele Identifier: CA413197834

Gene: BMP15

Linked Data

• dbSNP Id: rs1387861526
• gnomAD v2: X-50658834-G-C
• gnomAD v4: X-50915834-G-C
• MyVariant Identifiers: chrX:g.50658834G>C (hg19) ; chrX:g.50915834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50915834G>C , CM000685.2:g.50915834G>C	GRCh38
NC_000023.10:g.50658834G>C , CM000685.1:g.50658834G>C	GRCh37
NC_000023.9:g.50675574G>C	NCBI36
NG_012894.1:g.10051G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.406G>C MANE Select	ENSP00000252677.3:p.Val136Leu
ENST00000252677.3:c.406G>C	ENSP00000252677.3:p.Val136Leu
NM_005448.2:c.406G>C MANE Select	NP_005439.2:p.Val136Leu