Canonical Allele Identifier: CA33385182

Gene: EDEM3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.184712562A>T , CM000663.2:g.184712562A>T	GRCh38
NC_000001.10:g.184681696A>T , CM000663.1:g.184681696A>T	GRCh37
NC_000001.9:g.182948319A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_025191.4:c.1407T>A MANE Select	NP_079467.3:p.Tyr469Ter
ENST00000318130.13:c.1407T>A MANE Select	ENSP00000318147.7:p.Tyr469Ter
NM_001319960.1:c.1407T>A	NP_001306889.1:p.Tyr469Ter
NM_001319960.2:c.1407T>A	NP_001306889.1:p.Tyr469Ter
NM_025191.3:c.1407T>A	NP_079467.3:p.Tyr469Ter
NR_135118.1:n.1668T>A
NR_135118.2:n.1619T>A
ENST00000318130.12:c.1407T>A	ENSP00000318147.7:p.Tyr469Ter
ENST00000367512.7:c.1278T>A	ENSP00000356482.3:p.Tyr426Ter
ENST00000367512.8:c.1407T>A	ENSP00000356482.4:p.Tyr469Ter
ENST00000685249.1:c.1407T>A	ENSP00000508618.1:p.Tyr469Ter
ENST00000685596.1:c.1278T>A	ENSP00000510056.1:p.Tyr426Ter
ENST00000686047.1:c.1176T>A	ENSP00000508800.1:p.Tyr392Ter
ENST00000686225.1:c.1482T>A	ENSP00000509786.1:p.Tyr494Ter
ENST00000687113.1:c.1176T>A	ENSP00000509571.1:p.Tyr392Ter
ENST00000687397.1:n.950T>A
ENST00000689766.1:n.1611T>A
ENST00000692170.1:c.1176T>A	ENSP00000508652.1:p.Tyr392Ter
XM_005245499.1:c.1407T>A	XP_005245556.1:p.Tyr469Ter
XM_005245499.2:c.1407T>A	XP_005245556.1:p.Tyr469Ter
XM_011510010.1:c.1407T>A	XP_011508312.1:p.Tyr469Ter
XM_011510011.1:c.1407T>A	XP_011508313.1:p.Tyr469Ter
XM_011510012.1:c.1176T>A	XP_011508314.1:p.Tyr392Ter
XM_011510013.1:c.1407T>A	XP_011508315.1:p.Tyr469Ter
XM_011510013.3:c.1407T>A	XP_011508315.1:p.Tyr469Ter
XM_011510014.1:c.1407T>A	XP_011508316.1:p.Tyr469Ter
XM_011510014.3:c.1407T>A	XP_011508316.1:p.Tyr469Ter
XM_017002397.1:c.1176T>A	XP_016857886.1:p.Tyr392Ter
XM_017002398.1:c.1176T>A	XP_016857887.1:p.Tyr392Ter