Canonical Allele Identifier: CA478956749

Gene: PYROXD1

Linked Data

• MyVariant Identifiers: chr12:g.21602541C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449607C>T , CM000674.2:g.21449607C>T	GRCh38
NC_000012.11:g.21602541C>T , CM000674.1:g.21602541C>T	GRCh37
NC_000012.10:g.21493808C>T	NCBI36
NG_053196.1:g.17004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.330C>T MANE Select	ENSP00000240651.9:p.Leu110=
ENST00000240651.13:c.330C>T	ENSP00000240651.9:p.Leu110=
ENST00000375266.8:c.*256C>T	ENSP00000364415.4:n.*256C>T
ENST00000538582.5:c.117C>T	ENSP00000438505.1:p.Leu39=
ENST00000543476.5:c.330C>T	ENSP00000440192.1:p.Leu110=
ENST00000544970.5:c.330C>T	ENSP00000439106.1:p.Leu110=
NM_024854.3:c.330C>T	NP_079130.2:p.Leu110=
XM_006719153.2:c.330C>T	XP_006719216.1:p.Leu110=
XR_242902.3:n.457C>T
NM_001350912.1:c.117C>T	NP_001337841.1:p.Leu39=
NM_001350913.1:c.-374C>T	NP_001337842.1:n.-374C>T
NM_024854.4:c.330C>T	NP_079130.2:p.Leu110=
XM_006719153.3:c.330C>T	XP_006719216.1:p.Leu110=
XR_242902.4:n.431C>T
NM_024854.5:c.330C>T MANE Select	NP_079130.2:p.Leu110=
NM_001350913.2:c.-374C>T	NP_001337842.1:n.-374C>T
NM_001350912.2:c.117C>T	NP_001337841.1:p.Leu39=