Canonical Allele Identifier: CA413197741

Gene: BMP15

Linked Data

• dbSNP Id: rs1557280278
• gnomAD v2: X-50658787-C-T
• gnomAD v3: X-50915787-C-T
• gnomAD v4: X-50915787-C-T
• MyVariant Identifiers: chrX:g.50658787C>T (hg19) ; chrX:g.50915787C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50915787C>T , CM000685.2:g.50915787C>T	GRCh38
NC_000023.10:g.50658787C>T , CM000685.1:g.50658787C>T	GRCh37
NC_000023.9:g.50675527C>T	NCBI36
NG_012894.1:g.10004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.359C>T MANE Select	ENSP00000252677.3:p.Pro120Leu
ENST00000252677.3:c.359C>T	ENSP00000252677.3:p.Pro120Leu
NM_005448.2:c.359C>T MANE Select	NP_005439.2:p.Pro120Leu