Canonical Allele Identifier: CA6478176
Gene: PYROXD1 HGNC NCBI

Linked Data

dbSNP Id: rs562425663

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21449604A>G , CM000674.2:g.21449604A>G GRCh38
NC_000012.11:g.21602538A>G , CM000674.1:g.21602538A>G GRCh37
NC_000012.10:g.21493805A>G NCBI36
NG_053196.1:g.17001A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000240651.14:c.327A>G MANE Select ENSP00000240651.9:p.Lys109=
ENST00000240651.13:c.327A>G ENSP00000240651.9:p.Lys109=
ENST00000375266.8:c.*253A>G ENSP00000364415.4:n.*253A>G
ENST00000538582.5:c.114A>G ENSP00000438505.1:p.Lys38=
ENST00000543476.5:c.327A>G ENSP00000440192.1:p.Lys109=
ENST00000544970.5:c.327A>G ENSP00000439106.1:p.Lys109=
NM_024854.3:c.327A>G NP_079130.2:p.Lys109=
XM_006719153.2:c.327A>G XP_006719216.1:p.Lys109=
XR_242902.3:n.454A>G
NM_001350912.1:c.114A>G NP_001337841.1:p.Lys38=
NM_001350913.1:c.-377A>G NP_001337842.1:n.-377A>G
NM_024854.4:c.327A>G NP_079130.2:p.Lys109=
XM_006719153.3:c.327A>G XP_006719216.1:p.Lys109=
XR_242902.4:n.428A>G
NM_024854.5:c.327A>G MANE Select NP_079130.2:p.Lys109=
NM_001350913.2:c.-377A>G NP_001337842.1:n.-377A>G
NM_001350912.2:c.114A>G NP_001337841.1:p.Lys38=