Canonical Allele Identifier: CA800319891
Gene: BMPR1B HGNC NCBI

Linked Data

dbSNP Id: rs1342165475
gnomAD v3: 4-94935411-G-A
gnomAD v4: 4-94935411-G-A
MyVariant Identifiers: chr4:g.95856562G>A (hg19) chr4:g.94935411G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.94935411G>A , CM000666.2:g.94935411G>A GRCh38
NC_000004.11:g.95856562G>A , CM000666.1:g.95856562G>A GRCh37
NC_000004.10:g.96075585G>A NCBI36
NG_009245.1:g.182435G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000515059.6:c.-113+59511G>A MANE Select ENSP00000426617.1:n.-113+59511G>A
ENST00000515059.5:c.-113+59511G>A ENSP00000426617.1:n.-113+59511G>A
NM_001203.2:c.-113+59511G>A NP_001194.1:n.-113+59511G>A
XM_011532201.1:c.-18+59511G>A XP_011530503.1:n.-18+59511G>A
XM_011532201.2:c.-18+59511G>A XP_011530503.1:n.-18+59511G>A
XM_017008558.1:c.-113+59511G>A XP_016864047.1:n.-113+59511G>A
XM_017008559.1:c.-113+36361G>A XP_016864048.1:n.-113+36361G>A
NM_001203.3:c.-113+59511G>A MANE Select NP_001194.1:n.-113+59511G>A
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