Canonical Allele Identifier: CA3522890
Community Standard Title: NM_004045.4(ATOX1):c.149C>A (p.Thr50Asn)
Gene: ATOX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.151746383G>T , CM000667.2:g.151746383G>T GRCh38
NC_000005.9:g.151125944G>T , CM000667.1:g.151125944G>T GRCh37
NC_000005.8:g.151106137G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004045.4:c.149C>A MANE Select NP_004036.1:p.Thr50Asn
ENST00000313115.11:c.149C>A MANE Select ENSP00000316854.6:p.Thr50Asn
NM_004045.3:c.149C>A NP_004036.1:p.Thr50Asn
ENST00000313115.10:c.149C>A ENSP00000316854.6:p.Thr50Asn
ENST00000520382.5:c.122C>A ENSP00000429982.1:p.Thr41Asn
ENST00000521264.5:c.164C>A ENSP00000429366.1:p.Thr55Asn
ENST00000522145.5:n.181C>A
ENST00000522314.5:c.122C>A ENSP00000430028.1:p.Thr41Asn
ENST00000522710.1:c.149C>A ENSP00000429814.1:p.Thr50Asn
ENST00000524142.5:c.149C>A ENSP00000430598.1:p.Thr50Asn