Canonical Allele Identifier: CA10416510
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs781801740
gnomAD v2: X-50654025-A-G
gnomAD v3: X-50911025-A-G
gnomAD v4: X-50911025-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50911025A>G , CM000685.2:g.50911025A>G GRCh38
NC_000023.10:g.50654025A>G , CM000685.1:g.50654025A>G GRCh37
NC_000023.9:g.50670765A>G NCBI36
NG_012894.1:g.5242A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.242A>G MANE Select ENSP00000252677.3:p.His81Arg
ENST00000252677.3:c.242A>G ENSP00000252677.3:p.His81Arg
NM_005448.2:c.242A>G MANE Select NP_005439.2:p.His81Arg