Canonical Allele Identifier: CA8809965

Gene: ENGASE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79085682C>T , CM000679.2:g.79085682C>T	GRCh38
NC_000017.10:g.77081764C>T , CM000679.1:g.77081764C>T	GRCh37
NC_000017.9:g.74593359C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001042573.3:c.1763C>T MANE Select	NP_001036038.1:p.Pro588Leu
ENST00000579016.6:c.1763C>T MANE Select	ENSP00000462333.1:p.Pro588Leu
NM_001042573.2:c.1763C>T	NP_001036038.1:p.Pro588Leu
NM_001396052.1:c.1763C>T	NP_001382981.1:p.Pro588Leu
NM_001396053.1:c.1760C>T	NP_001382982.1:p.Pro587Leu
NM_001396054.1:c.1952C>T	NP_001382983.1:p.Pro651Leu
NM_001396055.1:c.1760C>T	NP_001382984.1:p.Pro587Leu
ENST00000300682.14:c.1907C>T
ENST00000579016.5:c.1763C>T	ENSP00000462333.1:p.Pro588Leu
ENST00000579809.1:n.612C>T
ENST00000585160.1:n.116C>T
XM_006722015.2:c.1373C>T	XP_006722078.1:p.Pro458Leu
XM_006722016.2:c.1373C>T	XP_006722079.1:p.Pro458Leu
XM_006722017.2:c.1205C>T	XP_006722080.1:p.Pro402Leu
XM_006722017.3:c.1205C>T	XP_006722080.1:p.Pro402Leu
XM_006722018.2:c.881C>T	XP_006722081.1:p.Pro294Leu
XM_006722018.3:c.881C>T	XP_006722081.1:p.Pro294Leu
XM_017024961.1:c.1373C>T	XP_016880450.1:p.Pro458Leu
XR_001752594.1:n.2710C>T
XR_429918.1:n.1896C>T
XR_429919.1:n.1896C>T
XR_429920.1:n.1900C>T
XR_934534.1:n.1896C>T
XR_934535.1:n.1896C>T
XR_934536.1:n.1896C>T