Canonical Allele Identifier: CA478956757

Gene: PYROXD1

Linked Data

• MyVariant Identifiers: chr12:g.21602547G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449613G>T , CM000674.2:g.21449613G>T	GRCh38
NC_000012.11:g.21602547G>T , CM000674.1:g.21602547G>T	GRCh37
NC_000012.10:g.21493814G>T	NCBI36
NG_053196.1:g.17010G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.336G>T MANE Select	ENSP00000240651.9:p.Leu112=
ENST00000240651.13:c.336G>T	ENSP00000240651.9:p.Leu112=
ENST00000375266.8:c.*262G>T	ENSP00000364415.4:n.*262G>T
ENST00000538582.5:c.123G>T	ENSP00000438505.1:p.Leu41=
ENST00000543476.5:c.336G>T	ENSP00000440192.1:p.Leu112=
ENST00000544970.5:c.336G>T	ENSP00000439106.1:p.Leu112=
NM_024854.3:c.336G>T	NP_079130.2:p.Leu112=
XM_006719153.2:c.336G>T	XP_006719216.1:p.Leu112=
XR_242902.3:n.463G>T
NM_001350912.1:c.123G>T	NP_001337841.1:p.Leu41=
NM_001350913.1:c.-368G>T	NP_001337842.1:n.-368G>T
NM_024854.4:c.336G>T	NP_079130.2:p.Leu112=
XM_006719153.3:c.336G>T	XP_006719216.1:p.Leu112=
XR_242902.4:n.437G>T
NM_024854.5:c.336G>T MANE Select	NP_079130.2:p.Leu112=
NM_001350913.2:c.-368G>T	NP_001337842.1:n.-368G>T
NM_001350912.2:c.123G>T	NP_001337841.1:p.Leu41=