Canonical Allele Identifier: CA413198449
Gene: BMP15 HGNC NCBI

Linked Data

gnomAD v4: X-50916113-A-C
MyVariant Identifiers: chrX:g.50659113A>C (hg19) chrX:g.50916113A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50916113A>C , CM000685.2:g.50916113A>C GRCh38
NC_000023.10:g.50659113A>C , CM000685.1:g.50659113A>C GRCh37
NC_000023.9:g.50675853A>C NCBI36
NG_012894.1:g.10330A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.685A>C MANE Select ENSP00000252677.3:p.Ile229Leu
ENST00000252677.3:c.685A>C ENSP00000252677.3:p.Ile229Leu
NM_005448.2:c.685A>C MANE Select NP_005439.2:p.Ile229Leu
Search 100 bp 5'
Search 100 bp 3'