Canonical Allele Identifier: CA478956740

Gene: PYROXD1

Linked Data

• MyVariant Identifiers: chr12:g.21602532T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21449598T>C , CM000674.2:g.21449598T>C	GRCh38
NC_000012.11:g.21602532T>C , CM000674.1:g.21602532T>C	GRCh37
NC_000012.10:g.21493799T>C	NCBI36
NG_053196.1:g.16995T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000240651.14:c.321T>C MANE Select	ENSP00000240651.9:p.Tyr107=
ENST00000240651.13:c.321T>C	ENSP00000240651.9:p.Tyr107=
ENST00000375266.8:c.*247T>C	ENSP00000364415.4:n.*247T>C
ENST00000538582.5:c.108T>C	ENSP00000438505.1:p.Tyr36=
ENST00000543476.5:c.321T>C	ENSP00000440192.1:p.Tyr107=
ENST00000544970.5:c.321T>C	ENSP00000439106.1:p.Tyr107=
NM_024854.3:c.321T>C	NP_079130.2:p.Tyr107=
XM_006719153.2:c.321T>C	XP_006719216.1:p.Tyr107=
XR_242902.3:n.448T>C
NM_001350912.1:c.108T>C	NP_001337841.1:p.Tyr36=
NM_001350913.1:c.-383T>C	NP_001337842.1:n.-383T>C
NM_024854.4:c.321T>C	NP_079130.2:p.Tyr107=
XM_006719153.3:c.321T>C	XP_006719216.1:p.Tyr107=
XR_242902.4:n.422T>C
NM_024854.5:c.321T>C MANE Select	NP_079130.2:p.Tyr107=
NM_001350913.2:c.-383T>C	NP_001337842.1:n.-383T>C
NM_001350912.2:c.108T>C	NP_001337841.1:p.Tyr36=