Canonical Allele Identifier: CA3391044
Community Standard Title: NM_178450.5(MARCHF3):c.77C>T (p.Thr26Met)
Gene: MARCHF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126918095G>A , CM000667.2:g.126918095G>A GRCh38
NC_000005.9:g.126253787G>A , CM000667.1:g.126253787G>A GRCh37
NC_000005.8:g.126281686G>A NCBI36
NG_033192.1:g.117714C>T

Transcript Alleles

HGVS Amino-acid Change
NM_178450.5:c.77C>T MANE Select NP_848545.1:p.Thr26Met
ENST00000308660.6:c.77C>T MANE Select ENSP00000309141.5:p.Thr26Met
NM_178450.4:c.77C>T NP_848545.1:p.Thr26Met
ENST00000308660.5:c.77C>T ENSP00000309141.5:p.Thr26Met
ENST00000502289.1:n.449C>T
ENST00000515241.1:c.77C>T ENSP00000421979.1:p.Thr26Met
XM_011543128.1:c.438C>T XP_011541430.1:p.Asp146=
XM_011543128.2:c.438C>T XP_011541430.1:p.Asp146=
XM_011543129.1:c.77C>T XP_011541431.1:p.Thr26Met
XM_011543130.1:c.77C>T XP_011541432.1:p.Thr26Met
XM_011543131.1:c.77C>T XP_011541433.1:p.Thr26Met
XM_011543131.3:c.77C>T XP_011541433.1:p.Thr26Met
XM_011543132.1:c.438C>T XP_011541434.1:p.Asp146=
XM_017009014.1:c.120C>T XP_016864503.1:p.Asp40=
XM_017009015.1:c.77C>T XP_016864504.1:p.Thr26Met