Canonical Allele Identifier: CA516681370
Gene: BMP15 HGNC NCBI

Linked Data

gnomAD v3: X-50915962-T-C
gnomAD v4: X-50915962-T-C
MyVariant Identifiers: chrX:g.50658962T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50915962T>C , CM000685.2:g.50915962T>C GRCh38
NC_000023.10:g.50658962T>C , CM000685.1:g.50658962T>C GRCh37
NC_000023.9:g.50675702T>C NCBI36
NG_012894.1:g.10179T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252677.4:c.534T>C MANE Select ENSP00000252677.3:p.Ser178=
ENST00000252677.3:c.534T>C ENSP00000252677.3:p.Ser178=
NM_005448.2:c.534T>C MANE Select NP_005439.2:p.Ser178=