Canonical Allele Identifier: CA1287765

Gene: EDEM3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.184749569T>C , CM000663.2:g.184749569T>C	GRCh38
NC_000001.10:g.184718703T>C , CM000663.1:g.184718703T>C	GRCh37
NC_000001.9:g.182985326T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_025191.4:c.182A>G MANE Select	NP_079467.3:p.Asp61Gly
ENST00000318130.13:c.182A>G MANE Select	ENSP00000318147.7:p.Asp61Gly
NM_001319960.1:c.182A>G	NP_001306889.1:p.Asp61Gly
NM_001319960.2:c.182A>G	NP_001306889.1:p.Asp61Gly
NM_025191.3:c.182A>G	NP_079467.3:p.Asp61Gly
NR_135118.1:n.443A>G
NR_135118.2:n.394A>G
ENST00000318130.12:c.182A>G	ENSP00000318147.7:p.Asp61Gly
ENST00000367512.7:c.53A>G	ENSP00000356482.3:p.Asp18Gly
ENST00000367512.8:c.182A>G	ENSP00000356482.4:p.Asp61Gly
ENST00000474725.5:n.385+4920A>G
ENST00000685249.1:c.182A>G	ENSP00000508618.1:p.Asp61Gly
ENST00000685596.1:c.53A>G	ENSP00000510056.1:p.Asp18Gly
ENST00000686047.1:c.-28+4920A>G	ENSP00000508800.1:n.-28+4920A>G
ENST00000686225.1:c.182A>G	ENSP00000509786.1:p.Asp61Gly
ENST00000687113.1:c.-28+4920A>G	ENSP00000509571.1:n.-28+4920A>G
ENST00000689766.1:n.386A>G
ENST00000689946.1:n.403A>G
ENST00000692170.1:c.-28+4920A>G	ENSP00000508652.1:n.-28+4920A>G
ENST00000692182.1:n.404A>G
ENST00000693477.1:n.417A>G
XM_005245499.1:c.182A>G	XP_005245556.1:p.Asp61Gly
XM_005245499.2:c.182A>G	XP_005245556.1:p.Asp61Gly
XM_011510010.1:c.182A>G	XP_011508312.1:p.Asp61Gly
XM_011510011.1:c.182A>G	XP_011508313.1:p.Asp61Gly
XM_011510012.1:c.-28+4920A>G	XP_011508314.1:n.-28+4920A>G
XM_011510013.1:c.182A>G	XP_011508315.1:p.Asp61Gly
XM_011510013.3:c.182A>G	XP_011508315.1:p.Asp61Gly
XM_011510014.1:c.182A>G	XP_011508316.1:p.Asp61Gly
XM_011510014.3:c.182A>G	XP_011508316.1:p.Asp61Gly
XM_011510015.1:c.182A>G	XP_011508317.1:p.Asp61Gly
XM_017002397.1:c.-28+4920A>G	XP_016857886.1:n.-28+4920A>G
XM_017002398.1:c.-28+4920A>G	XP_016857887.1:n.-28+4920A>G