Canonical Allele Identifier: CA3579007
Community Standard Title: NM_031300.4(MXD3):c.284C>T (p.Thr95Met)
Gene: MXD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177310463G>A , CM000667.2:g.177310463G>A GRCh38
NC_000005.9:g.176737464G>A , CM000667.1:g.176737464G>A GRCh37
NC_000005.8:g.176670070G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_031300.4:c.284C>T MANE Select NP_112590.1:p.Thr95Met
ENST00000439742.7:c.284C>T MANE Select ENSP00000401867.2:p.Thr95Met
NM_001142935.1:c.284C>T NP_001136407.1:p.Thr95Met
NM_001142935.2:c.284C>T NP_001136407.1:p.Thr95Met
NM_001394986.1:c.284C>T NP_001381915.1:p.Thr95Met
NM_001394987.1:c.254C>T NP_001381916.1:p.Thr85Met
NM_031300.3:c.284C>T NP_112590.1:p.Thr95Met
ENST00000423571.6:c.284C>T ENSP00000389716.2:p.Thr95Met
ENST00000427908.6:c.284C>T ENSP00000416921.2:p.Thr95Met
ENST00000439742.6:c.284C>T ENSP00000401867.2:p.Thr95Met
ENST00000502529.1:c.254C>T ENSP00000425029.1:p.Thr85Met
ENST00000503473.5:n.1132C>T
ENST00000503782.1:n.1137C>T
ENST00000513063.5:c.284C>T ENSP00000421463.1:p.Thr95Met
ENST00000513169.1:c.35C>T ENSP00000427104.1:p.Thr12Met