Canonical Allele Identifier: CA32889615

Gene: PRRX1

Linked Data

• dbSNP Id: rs962274896
• gnomAD v3: 1-170664698-G-A
• gnomAD v4: 1-170664698-G-A
• MyVariant Identifiers: chr1:g.170633839G>A (hg19) ; chr1:g.170664698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.170664698G>A , CM000663.2:g.170664698G>A	GRCh38
NC_000001.10:g.170633839G>A , CM000663.1:g.170633839G>A	GRCh37
NC_000001.9:g.168900463G>A	NCBI36
NG_031856.2:g.5527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239461.11:c.241+239G>A MANE Select	ENSP00000239461.6:n.241+239G>A
ENST00000239461.10:c.241+239G>A	ENSP00000239461.6:n.241+239G>A
ENST00000367760.7:c.241+239G>A	ENSP00000356734.3:n.241+239G>A
ENST00000497230.2:c.241+239G>A	ENSP00000450762.1:n.241+239G>A
ENST00000553786.1:n.351+239G>A
NM_006902.4:c.241+239G>A	NP_008833.1:n.241+239G>A
NM_022716.3:c.241+239G>A	NP_073207.1:n.241+239G>A
XM_006711388.2:c.100+239G>A	XP_006711451.1:n.100+239G>A
XM_006711388.3:c.100+239G>A	XP_006711451.1:n.100+239G>A
NM_022716.4:c.241+239G>A MANE Select	NP_073207.1:n.241+239G>A
NM_006902.5:c.241+239G>A	NP_008833.1:n.241+239G>A