Canonical Allele Identifier: CA2575097262

Gene: PYROXD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449747A>C , CM000674.2:g.21449747A>C	GRCh38
NC_000012.11:g.21602681A>C , CM000674.1:g.21602681A>C	GRCh37
NC_000012.10:g.21493948A>C	NCBI36
NG_053196.1:g.17144A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.414+56A>C MANE Select	ENSP00000240651.9:n.414+56A>C
ENST00000240651.13:c.414+56A>C	ENSP00000240651.9:n.414+56A>C
ENST00000375266.8:c.*340+56A>C	ENSP00000364415.4:n.*340+56A>C
ENST00000538582.5:c.201+56A>C	ENSP00000438505.1:n.201+56A>C
ENST00000543476.5:c.414+56A>C	ENSP00000440192.1:n.414+56A>C
ENST00000544970.5:c.414+56A>C	ENSP00000439106.1:n.414+56A>C
NM_024854.3:c.414+56A>C	NP_079130.2:n.414+56A>C
XM_006719153.2:c.414+56A>C	XP_006719216.1:n.414+56A>C
XR_242902.3:n.541+56A>C
NM_001350912.1:c.201+56A>C	NP_001337841.1:n.201+56A>C
NM_001350913.1:c.-290+56A>C	NP_001337842.1:n.-290+56A>C
NM_024854.4:c.414+56A>C	NP_079130.2:n.414+56A>C
XM_006719153.3:c.414+56A>C	XP_006719216.1:n.414+56A>C
XR_242902.4:n.515+56A>C
NM_024854.5:c.414+56A>C MANE Select	NP_079130.2:n.414+56A>C
NM_001350913.2:c.-290+56A>C	NP_001337842.1:n.-290+56A>C
NM_001350912.2:c.201+56A>C	NP_001337841.1:n.201+56A>C