Canonical Allele Identifier: CA384301859

Gene: PYROXD1

Linked Data

• MyVariant Identifiers: chr12:g.21602537A>T (hg19) ; chr12:g.21449603A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449603A>T , CM000674.2:g.21449603A>T	GRCh38
NC_000012.11:g.21602537A>T , CM000674.1:g.21602537A>T	GRCh37
NC_000012.10:g.21493804A>T	NCBI36
NG_053196.1:g.17000A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.326A>T MANE Select	ENSP00000240651.9:p.Lys109Ile
ENST00000240651.13:c.326A>T	ENSP00000240651.9:p.Lys109Ile
ENST00000375266.8:c.*252A>T	ENSP00000364415.4:n.*252A>T
ENST00000538582.5:c.113A>T	ENSP00000438505.1:p.Lys38Ile
ENST00000543476.5:c.326A>T	ENSP00000440192.1:p.Lys109Ile
ENST00000544970.5:c.326A>T	ENSP00000439106.1:p.Lys109Ile
NM_024854.3:c.326A>T	NP_079130.2:p.Lys109Ile
XM_006719153.2:c.326A>T	XP_006719216.1:p.Lys109Ile
XR_242902.3:n.453A>T
NM_001350912.1:c.113A>T	NP_001337841.1:p.Lys38Ile
NM_001350913.1:c.-378A>T	NP_001337842.1:n.-378A>T
NM_024854.4:c.326A>T	NP_079130.2:p.Lys109Ile
XM_006719153.3:c.326A>T	XP_006719216.1:p.Lys109Ile
XR_242902.4:n.427A>T
NM_024854.5:c.326A>T MANE Select	NP_079130.2:p.Lys109Ile
NM_001350913.2:c.-378A>T	NP_001337842.1:n.-378A>T
NM_001350912.2:c.113A>T	NP_001337841.1:p.Lys38Ile