Canonical Allele Identifier: CA415070007

Gene: BGN

Linked Data

• dbSNP Id: rs1126499
• gnomAD v2: X-152771509-C-A
• gnomAD v3: X-153506051-C-A
• gnomAD v4: X-153506051-C-A
• MyVariant Identifiers: chrX:g.152771509C>A (hg19) ; chrX:g.153506051C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153506051C>A , CM000685.2:g.153506051C>A	GRCh38
NC_000023.10:g.152771509C>A , CM000685.1:g.152771509C>A	GRCh37
NC_000023.9:g.152424703C>A	NCBI36
NG_015961.1:g.16099C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000331595.9:c.540C>A MANE Select	ENSP00000327336.4:p.Ser180Arg
ENST00000331595.8:c.540C>A	ENSP00000327336.4:p.Ser180Arg
ENST00000431891.1:c.591C>A	ENSP00000402525.1:p.Ser197Arg
ENST00000472615.5:n.557C>A
ENST00000480756.1:n.610C>A
ENST00000492658.1:n.183C>A
NM_001711.4:c.540C>A	NP_001702.1:p.Ser180Arg
NM_001711.5:c.540C>A	NP_001702.1:p.Ser180Arg
XM_017029724.2:c.540C>A	XP_016885213.1:p.Ser180Arg
NM_001711.6:c.540C>A MANE Select	NP_001702.1:p.Ser180Arg