Canonical Allele Identifier: CA384301862

Gene: PYROXD1

Linked Data

• gnomAD v4: 12-21449605-C-T
• MyVariant Identifiers: chr12:g.21602539C>T (hg19) ; chr12:g.21449605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449605C>T , CM000674.2:g.21449605C>T	GRCh38
NC_000012.11:g.21602539C>T , CM000674.1:g.21602539C>T	GRCh37
NC_000012.10:g.21493806C>T	NCBI36
NG_053196.1:g.17002C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.328C>T MANE Select	ENSP00000240651.9:p.Leu110Phe
ENST00000240651.13:c.328C>T	ENSP00000240651.9:p.Leu110Phe
ENST00000375266.8:c.*254C>T	ENSP00000364415.4:n.*254C>T
ENST00000538582.5:c.115C>T	ENSP00000438505.1:p.Leu39Phe
ENST00000543476.5:c.328C>T	ENSP00000440192.1:p.Leu110Phe
ENST00000544970.5:c.328C>T	ENSP00000439106.1:p.Leu110Phe
NM_024854.3:c.328C>T	NP_079130.2:p.Leu110Phe
XM_006719153.2:c.328C>T	XP_006719216.1:p.Leu110Phe
XR_242902.3:n.455C>T
NM_001350912.1:c.115C>T	NP_001337841.1:p.Leu39Phe
NM_001350913.1:c.-376C>T	NP_001337842.1:n.-376C>T
NM_024854.4:c.328C>T	NP_079130.2:p.Leu110Phe
XM_006719153.3:c.328C>T	XP_006719216.1:p.Leu110Phe
XR_242902.4:n.429C>T
NM_024854.5:c.328C>T MANE Select	NP_079130.2:p.Leu110Phe
NM_001350913.2:c.-376C>T	NP_001337842.1:n.-376C>T
NM_001350912.2:c.115C>T	NP_001337841.1:p.Leu39Phe