Canonical Allele Identifier: CA10416556
Gene: BMP15 HGNC NCBI

Linked Data

dbSNP Id: rs104894767
gnomAD v2: X-50658966-G-T
gnomAD v3: X-50915966-G-T
gnomAD v4: X-50915966-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50915966G>T , CM000685.2:g.50915966G>T GRCh38
NC_000023.10:g.50658966G>T , CM000685.1:g.50658966G>T GRCh37
NC_000023.9:g.50675706G>T NCBI36
NG_012894.1:g.10183G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252677.4:c.538G>T MANE Select ENSP00000252677.3:p.Ala180Ser
ENST00000252677.3:c.538G>T ENSP00000252677.3:p.Ala180Ser
NM_005448.2:c.538G>T MANE Select NP_005439.2:p.Ala180Ser