Canonical Allele Identifier: CA6478173

Gene: PYROXD1

Linked Data

• ClinVar Variation Id: 2152470
• ClinVar RCV Id: RCV003075039
• dbSNP Id: rs377212635
• ExAC: 12:21602529 A / G
• gnomAD v2: 12-21602529-A-G
• gnomAD v3: 12-21449595-A-G
• gnomAD v4: 12-21449595-A-G
• MyVariant Identifiers: chr12:g.21602529A>G (hg19) ; chr12:g.21449595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449595A>G , CM000674.2:g.21449595A>G	GRCh38
NC_000012.11:g.21602529A>G , CM000674.1:g.21602529A>G	GRCh37
NC_000012.10:g.21493796A>G	NCBI36
NG_053196.1:g.16992A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.318A>G MANE Select	ENSP00000240651.9:p.Val106=
ENST00000240651.13:c.318A>G	ENSP00000240651.9:p.Val106=
ENST00000375266.8:c.*244A>G	ENSP00000364415.4:n.*244A>G
ENST00000538582.5:c.105A>G	ENSP00000438505.1:p.Val35=
ENST00000543476.5:c.318A>G	ENSP00000440192.1:p.Val106=
ENST00000544970.5:c.318A>G	ENSP00000439106.1:p.Val106=
NM_024854.3:c.318A>G	NP_079130.2:p.Val106=
XM_006719153.2:c.318A>G	XP_006719216.1:p.Val106=
XR_242902.3:n.445A>G
NM_001350912.1:c.105A>G	NP_001337841.1:p.Val35=
NM_001350913.1:c.-386A>G	NP_001337842.1:n.-386A>G
NM_024854.4:c.318A>G	NP_079130.2:p.Val106=
XM_006719153.3:c.318A>G	XP_006719216.1:p.Val106=
XR_242902.4:n.419A>G
NM_024854.5:c.318A>G MANE Select	NP_079130.2:p.Val106=
NM_001350913.2:c.-386A>G	NP_001337842.1:n.-386A>G
NM_001350912.2:c.105A>G	NP_001337841.1:p.Val35=