Canonical Allele Identifier: CA10416545
Gene: BMP15 HGNC NCBI

Linked Data

ClinVar Variation Id: 368538
ClinVar RCV Id: RCV000322944 RCV000835592
dbSNP Id: rs114823607
ExAC: X:50658871 T / C
gnomAD v2: X-50658871-T-C
gnomAD v3: X-50915871-T-C
gnomAD v4: X-50915871-T-C
MyVariant Identifiers: chrX:g.50658871T>C (hg19) chrX:g.50915871T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50915871T>C , CM000685.2:g.50915871T>C GRCh38
NC_000023.10:g.50658871T>C , CM000685.1:g.50658871T>C GRCh37
NC_000023.9:g.50675611T>C NCBI36
NG_012894.1:g.10088T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252677.4:c.443T>C MANE Select ENSP00000252677.3:p.Leu148Pro
ENST00000252677.3:c.443T>C ENSP00000252677.3:p.Leu148Pro
NM_005448.2:c.443T>C MANE Select NP_005439.2:p.Leu148Pro
Search 100 bp 5'
Search 100 bp 3'