Canonical Allele Identifier: CA10416533
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs112760570
gnomAD v2: X-50658809-A-G
gnomAD v3: X-50915809-A-G
gnomAD v4: X-50915809-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50915809A>G , CM000685.2:g.50915809A>G GRCh38
NC_000023.10:g.50658809A>G , CM000685.1:g.50658809A>G GRCh37
NC_000023.9:g.50675549A>G NCBI36
NG_012894.1:g.10026A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.381A>G MANE Select ENSP00000252677.3:p.Leu127=
ENST00000252677.3:c.381A>G ENSP00000252677.3:p.Leu127=
NM_005448.2:c.381A>G MANE Select NP_005439.2:p.Leu127=