Canonical Allele Identifier: CA413197833
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs1387861526
gnomAD v2: X-50658834-G-A
gnomAD v4: X-50915834-G-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.406G>A MANE Select ENSP00000252677.3:p.Val136Ile
ENST00000252677.3:c.406G>A ENSP00000252677.3:p.Val136Ile
NM_005448.2:c.406G>A MANE Select NP_005439.2:p.Val136Ile