Canonical Allele Identifier: CA6478154

Gene: PYROXD1

Linked Data

• ClinVar Variation Id: 372278
• ClinVar RCV Id: RCV000412640 ; RCV001390403
• dbSNP Id: rs369083786
• ExAC: 12:21598401 G / A
• gnomAD v2: 12-21598401-G-A
• gnomAD v3: 12-21445467-G-A
• gnomAD v4: 12-21445467-G-A
• MyVariant Identifiers: chr12:g.21598401G>A (hg19) ; chr12:g.21445467G>A (hg38)
• PubMed: PMID:27745833

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21445467G>A , CM000674.2:g.21445467G>A	GRCh38
NC_000012.11:g.21598401G>A , CM000674.1:g.21598401G>A	GRCh37
NC_000012.10:g.21489668G>A	NCBI36
NG_053196.1:g.12864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.285+1G>A MANE Select	ENSP00000240651.9:n.285+1G>A
ENST00000240651.13:c.285+1G>A	ENSP00000240651.9:n.285+1G>A
ENST00000375266.8:c.*211+1G>A	ENSP00000364415.4:n.*211+1G>A
ENST00000538582.5:c.72+1G>A	ENSP00000438505.1:n.72+1G>A
ENST00000543476.5:c.285+1G>A	ENSP00000440192.1:n.285+1G>A
ENST00000544970.5:c.285+1G>A	ENSP00000439106.1:n.285+1G>A
NM_024854.3:c.285+1G>A	NP_079130.2:n.285+1G>A
XM_006719153.2:c.285+1G>A	XP_006719216.1:n.285+1G>A
XR_242902.3:n.412+1G>A
NM_001350912.1:c.72+1G>A	NP_001337841.1:n.72+1G>A
NM_001350913.1:c.-419+1G>A	NP_001337842.1:n.-419+1G>A
NM_024854.4:c.285+1G>A	NP_079130.2:n.285+1G>A
XM_006719153.3:c.285+1G>A	XP_006719216.1:n.285+1G>A
XR_242902.4:n.386+1G>A
NM_024854.5:c.285+1G>A MANE Select	NP_079130.2:n.285+1G>A
NM_001350913.2:c.-419+1G>A	NP_001337842.1:n.-419+1G>A
NM_001350912.2:c.72+1G>A	NP_001337841.1:n.72+1G>A