Canonical Allele Identifier: CA384301886

Gene: PYROXD1

Linked Data

• gnomAD v4: 12-21449615-G-T
• MyVariant Identifiers: chr12:g.21602549G>T (hg19) ; chr12:g.21449615G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449615G>T , CM000674.2:g.21449615G>T	GRCh38
NC_000012.11:g.21602549G>T , CM000674.1:g.21602549G>T	GRCh37
NC_000012.10:g.21493816G>T	NCBI36
NG_053196.1:g.17012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.338G>T MANE Select	ENSP00000240651.9:p.Cys113Phe
ENST00000240651.13:c.338G>T	ENSP00000240651.9:p.Cys113Phe
ENST00000375266.8:c.*264G>T	ENSP00000364415.4:n.*264G>T
ENST00000538582.5:c.125G>T	ENSP00000438505.1:p.Cys42Phe
ENST00000543476.5:c.338G>T	ENSP00000440192.1:p.Cys113Phe
ENST00000544970.5:c.338G>T	ENSP00000439106.1:p.Cys113Phe
NM_024854.3:c.338G>T	NP_079130.2:p.Cys113Phe
XM_006719153.2:c.338G>T	XP_006719216.1:p.Cys113Phe
XR_242902.3:n.465G>T
NM_001350912.1:c.125G>T	NP_001337841.1:p.Cys42Phe
NM_001350913.1:c.-366G>T	NP_001337842.1:n.-366G>T
NM_024854.4:c.338G>T	NP_079130.2:p.Cys113Phe
XM_006719153.3:c.338G>T	XP_006719216.1:p.Cys113Phe
XR_242902.4:n.439G>T
NM_024854.5:c.338G>T MANE Select	NP_079130.2:p.Cys113Phe
NM_001350913.2:c.-366G>T	NP_001337842.1:n.-366G>T
NM_001350912.2:c.125G>T	NP_001337841.1:p.Cys42Phe