Canonical Allele Identifier: CA6478170

Gene: PYROXD1

Linked Data

• ClinVar Variation Id: 2162633
• ClinVar RCV Id: RCV003070342
• dbSNP Id: rs149739786
• ExAC: 12:21602526 C / T
• gnomAD v2: 12-21602526-C-T
• gnomAD v3: 12-21449592-C-T
• gnomAD v4: 12-21449592-C-T
• MyVariant Identifiers: chr12:g.21602526C>T (hg19) ; chr12:g.21449592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449592C>T , CM000674.2:g.21449592C>T	GRCh38
NC_000012.11:g.21602526C>T , CM000674.1:g.21602526C>T	GRCh37
NC_000012.10:g.21493793C>T	NCBI36
NG_053196.1:g.16989C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.315C>T MANE Select	ENSP00000240651.9:p.His105=
ENST00000240651.13:c.315C>T	ENSP00000240651.9:p.His105=
ENST00000375266.8:c.*241C>T	ENSP00000364415.4:n.*241C>T
ENST00000538582.5:c.102C>T	ENSP00000438505.1:p.His34=
ENST00000543476.5:c.315C>T	ENSP00000440192.1:p.His105=
ENST00000544970.5:c.315C>T	ENSP00000439106.1:p.His105=
NM_024854.3:c.315C>T	NP_079130.2:p.His105=
XM_006719153.2:c.315C>T	XP_006719216.1:p.His105=
XR_242902.3:n.442C>T
NM_001350912.1:c.102C>T	NP_001337841.1:p.His34=
NM_001350913.1:c.-389C>T	NP_001337842.1:n.-389C>T
NM_024854.4:c.315C>T	NP_079130.2:p.His105=
XM_006719153.3:c.315C>T	XP_006719216.1:p.His105=
XR_242902.4:n.416C>T
NM_024854.5:c.315C>T MANE Select	NP_079130.2:p.His105=
NM_001350913.2:c.-389C>T	NP_001337842.1:n.-389C>T
NM_001350912.2:c.102C>T	NP_001337841.1:p.His34=