Canonical Allele Identifier: CA254355
Gene: BMPR1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8230
ClinVar RCV Id: RCV000008713
dbSNP Id: rs199476084

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86917173C>T , CM000672.2:g.86917173C>T GRCh38
NC_000010.10:g.88676930C>T , CM000672.1:g.88676930C>T GRCh37
NC_000010.9:g.88666910C>T NCBI36
NG_009362.1:g.165535C>T , LRG_298:g.165535C>T

Transcript Alleles

HGVS Amino-acid change
NM_004329.2:c.715C>T , LRG_298t1:c.715C>T NP_004320.2:p.Gln239Ter
XM_011540103.1:c.715C>T XP_011538405.1:p.Gln239Ter
XM_011540104.1:c.715C>T XP_011538406.1:p.Gln239Ter
XM_011540103.2:c.715C>T
XM_011540104.2:c.715C>T
ENST00000372037.7:c.715C>T ENSP00000361107.1:p.Gln239Ter