Canonical Allele Identifier: CA1065615574
Gene: BMPR1B HGNC NCBI

Linked Data

dbSNP Id: rs1729257240
gnomAD v3: 4-94935485-C-A
gnomAD v4: 4-94935485-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935485C>A , CM000666.2:g.94935485C>A GRCh38
NC_000004.11:g.95856636C>A , CM000666.1:g.95856636C>A GRCh37
NC_000004.10:g.96075659C>A NCBI36
NG_009245.1:g.182509C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000515059.6:c.-113+59585C>A MANE Select ENSP00000426617.1:n.-113+59585C>A
ENST00000515059.5:c.-113+59585C>A ENSP00000426617.1:n.-113+59585C>A
NM_001203.2:c.-113+59585C>A NP_001194.1:n.-113+59585C>A
XM_011532201.1:c.-18+59585C>A XP_011530503.1:n.-18+59585C>A
XM_011532201.2:c.-18+59585C>A XP_011530503.1:n.-18+59585C>A
XM_017008558.1:c.-113+59585C>A XP_016864047.1:n.-113+59585C>A
XM_017008559.1:c.-113+36435C>A XP_016864048.1:n.-113+36435C>A
NM_001203.3:c.-113+59585C>A MANE Select NP_001194.1:n.-113+59585C>A
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