Canonical Allele Identifier: CA6478172

Gene: PYROXD1

Linked Data

• ClinVar Variation Id: 1348836
• ClinVar RCV Id: RCV002050924
• dbSNP Id: rs756249393
• ExAC: 12:21602527 G / A
• gnomAD v2: 12-21602527-G-A
• gnomAD v3: 12-21449593-G-A
• gnomAD v4: 12-21449593-G-A
• MyVariant Identifiers: chr12:g.21602527G>A (hg19) ; chr12:g.21449593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449593G>A , CM000674.2:g.21449593G>A	GRCh38
NC_000012.11:g.21602527G>A , CM000674.1:g.21602527G>A	GRCh37
NC_000012.10:g.21493794G>A	NCBI36
NG_053196.1:g.16990G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.316G>A MANE Select	ENSP00000240651.9:p.Val106Ile
ENST00000240651.13:c.316G>A	ENSP00000240651.9:p.Val106Ile
ENST00000375266.8:c.*242G>A	ENSP00000364415.4:n.*242G>A
ENST00000538582.5:c.103G>A	ENSP00000438505.1:p.Val35Ile
ENST00000543476.5:c.316G>A	ENSP00000440192.1:p.Val106Ile
ENST00000544970.5:c.316G>A	ENSP00000439106.1:p.Val106Ile
NM_024854.3:c.316G>A	NP_079130.2:p.Val106Ile
XM_006719153.2:c.316G>A	XP_006719216.1:p.Val106Ile
XR_242902.3:n.443G>A
NM_001350912.1:c.103G>A	NP_001337841.1:p.Val35Ile
NM_001350913.1:c.-388G>A	NP_001337842.1:n.-388G>A
NM_024854.4:c.316G>A	NP_079130.2:p.Val106Ile
XM_006719153.3:c.316G>A	XP_006719216.1:p.Val106Ile
XR_242902.4:n.417G>A
NM_024854.5:c.316G>A MANE Select	NP_079130.2:p.Val106Ile
NM_001350913.2:c.-388G>A	NP_001337842.1:n.-388G>A
NM_001350912.2:c.103G>A	NP_001337841.1:p.Val35Ile