Canonical Allele Identifier: CA2617908429

Gene: PYROXD1

Linked Data

• gnomAD v4: 12-21449514-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449514A>C , CM000674.2:g.21449514A>C	GRCh38
NC_000012.11:g.21602448A>C , CM000674.1:g.21602448A>C	GRCh37
NC_000012.10:g.21493715A>C	NCBI36
NG_053196.1:g.16911A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.286-49A>C MANE Select	ENSP00000240651.9:n.286-49A>C
ENST00000240651.13:c.286-49A>C	ENSP00000240651.9:n.286-49A>C
ENST00000375266.8:c.*212-49A>C	ENSP00000364415.4:n.*212-49A>C
ENST00000538582.5:c.73-49A>C	ENSP00000438505.1:n.73-49A>C
ENST00000543476.5:c.286-49A>C	ENSP00000440192.1:n.286-49A>C
ENST00000544970.5:c.286-49A>C	ENSP00000439106.1:n.286-49A>C
NM_024854.3:c.286-49A>C	NP_079130.2:n.286-49A>C
XM_006719153.2:c.286-49A>C	XP_006719216.1:n.286-49A>C
XR_242902.3:n.413-49A>C
NM_001350912.1:c.73-49A>C	NP_001337841.1:n.73-49A>C
NM_001350913.1:c.-418-49A>C	NP_001337842.1:n.-418-49A>C
NM_024854.4:c.286-49A>C	NP_079130.2:n.286-49A>C
XM_006719153.3:c.286-49A>C	XP_006719216.1:n.286-49A>C
XR_242902.4:n.387-49A>C
NM_024854.5:c.286-49A>C MANE Select	NP_079130.2:n.286-49A>C
NM_001350913.2:c.-418-49A>C	NP_001337842.1:n.-418-49A>C
NM_001350912.2:c.73-49A>C	NP_001337841.1:n.73-49A>C