Canonical Allele Identifier: CA289715

Gene: BMP15

Linked Data

• ClinVar Variation Id: 136523
• ClinVar RCV Id: RCV000123856 ; RCV000265541
• dbSNP Id: rs41308602
• ExAC: X:50654091 A / G
• gnomAD v2: X-50654091-A-G
• gnomAD v3: X-50911091-A-G
• gnomAD v4: X-50911091-A-G
• COSMIC: COSM4988537
• MyVariant Identifiers: chrX:g.50654091A>G (hg19) ; chrX:g.50911091A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50911091A>G , CM000685.2:g.50911091A>G	GRCh38
NC_000023.10:g.50654091A>G , CM000685.1:g.50654091A>G	GRCh37
NC_000023.9:g.50670831A>G	NCBI36
NG_012894.1:g.5308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252677.4:c.308A>G MANE Select	ENSP00000252677.3:p.Asn103Ser
ENST00000252677.3:c.308A>G	ENSP00000252677.3:p.Asn103Ser
NM_005448.2:c.308A>G MANE Select	NP_005439.2:p.Asn103Ser