Canonical Allele Identifier: CA384301890

Gene: PYROXD1

Linked Data

• dbSNP Id: rs1338137847
• gnomAD v2: 12-21602551-G-C
• gnomAD v4: 12-21449617-G-C
• MyVariant Identifiers: chr12:g.21602551G>C (hg19) ; chr12:g.21449617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449617G>C , CM000674.2:g.21449617G>C	GRCh38
NC_000012.11:g.21602551G>C , CM000674.1:g.21602551G>C	GRCh37
NC_000012.10:g.21493818G>C	NCBI36
NG_053196.1:g.17014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240651.14:c.340G>C MANE Select	ENSP00000240651.9:p.Ala114Pro
ENST00000240651.13:c.340G>C	ENSP00000240651.9:p.Ala114Pro
ENST00000375266.8:c.*266G>C	ENSP00000364415.4:n.*266G>C
ENST00000538582.5:c.127G>C	ENSP00000438505.1:p.Ala43Pro
ENST00000543476.5:c.340G>C	ENSP00000440192.1:p.Ala114Pro
ENST00000544970.5:c.340G>C	ENSP00000439106.1:p.Ala114Pro
NM_024854.3:c.340G>C	NP_079130.2:p.Ala114Pro
XM_006719153.2:c.340G>C	XP_006719216.1:p.Ala114Pro
XR_242902.3:n.467G>C
NM_001350912.1:c.127G>C	NP_001337841.1:p.Ala43Pro
NM_001350913.1:c.-364G>C	NP_001337842.1:n.-364G>C
NM_024854.4:c.340G>C	NP_079130.2:p.Ala114Pro
XM_006719153.3:c.340G>C	XP_006719216.1:p.Ala114Pro
XR_242902.4:n.441G>C
NM_024854.5:c.340G>C MANE Select	NP_079130.2:p.Ala114Pro
NM_001350913.2:c.-364G>C	NP_001337842.1:n.-364G>C
NM_001350912.2:c.127G>C	NP_001337841.1:p.Ala43Pro