Canonical Allele Identifier: CA8809778

Gene: ENGASE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79083789T>G , CM000679.2:g.79083789T>G	GRCh38
NC_000017.10:g.77079871T>G , CM000679.1:g.77079871T>G	GRCh37
NC_000017.9:g.74591466T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001042573.3:c.1280T>G MANE Select	NP_001036038.1:p.Leu427Arg
ENST00000579016.6:c.1280T>G MANE Select	ENSP00000462333.1:p.Leu427Arg
NM_001042573.2:c.1280T>G	NP_001036038.1:p.Leu427Arg
NM_001396052.1:c.1280T>G	NP_001382981.1:p.Leu427Arg
NM_001396053.1:c.1280T>G	NP_001382982.1:p.Leu427Arg
NM_001396054.1:c.1469T>G	NP_001382983.1:p.Leu490Arg
NM_001396055.1:c.1280T>G	NP_001382984.1:p.Leu427Arg
ENST00000300682.14:c.1424T>G
ENST00000577783.2:n.176T>G
ENST00000579016.5:c.1280T>G	ENSP00000462333.1:p.Leu427Arg
ENST00000583041.2:n.319T>G
ENST00000584568.5:n.277T>G
XM_006722015.2:c.890T>G	XP_006722078.1:p.Leu297Arg
XM_006722016.2:c.890T>G	XP_006722079.1:p.Leu297Arg
XM_006722017.2:c.722T>G	XP_006722080.1:p.Leu241Arg
XM_006722017.3:c.722T>G	XP_006722080.1:p.Leu241Arg
XM_006722018.2:c.398T>G	XP_006722081.1:p.Leu133Arg
XM_006722018.3:c.398T>G	XP_006722081.1:p.Leu133Arg
XM_006722019.2:c.*16T>G	XP_006722082.1:n.*16T>G
XM_006722019.3:c.*16T>G	XP_006722082.1:n.*16T>G
XM_017024961.1:c.890T>G	XP_016880450.1:p.Leu297Arg
XR_001752594.1:n.2227T>G
XR_429918.1:n.1413T>G
XR_429919.1:n.1413T>G
XR_429920.1:n.1413T>G
XR_934534.1:n.1413T>G
XR_934535.1:n.1413T>G
XR_934536.1:n.1413T>G