Canonical Allele Identifier: CA8809358

Gene: ENGASE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79079547G>A , CM000679.2:g.79079547G>A	GRCh38
NC_000017.10:g.77075629G>A , CM000679.1:g.77075629G>A	GRCh37
NC_000017.9:g.74587224G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311595.14:c.475G>A	ENSP00000308158.10:p.Asp159Asn
ENST00000578419.6:c.417-660G>A	ENSP00000463537.1:n.417-660G>A
ENST00000579016.6:c.475G>A MANE Select	ENSP00000462333.1:p.Asp159Asn
ENST00000311595.13:c.351G>A
ENST00000578419.5:c.417-660G>A	ENSP00000463537.1:n.417-660G>A
ENST00000579016.5:c.475G>A	ENSP00000462333.1:p.Asp159Asn
NM_001042573.2:c.475G>A	NP_001036038.1:p.Asp159Asn
XM_006722015.2:c.85G>A	XP_006722078.1:p.Asp29Asn
XM_006722016.2:c.85G>A	XP_006722079.1:p.Asp29Asn
XM_006722017.2:c.8-660G>A	XP_006722080.1:n.8-660G>A
XM_006722019.2:c.475G>A	XP_006722082.1:p.Asp159Asn
XR_429918.1:n.608G>A
XR_429919.1:n.608G>A
XR_429920.1:n.608G>A
XR_934534.1:n.608G>A
XR_934535.1:n.608G>A
XR_934536.1:n.608G>A
XM_006722017.3:c.8-660G>A	XP_006722080.1:n.8-660G>A
XM_006722019.3:c.475G>A	XP_006722082.1:p.Asp159Asn
XM_017024961.1:c.85G>A	XP_016880450.1:p.Asp29Asn
XR_001752594.1:n.608G>A
NM_001042573.3:c.475G>A MANE Select	NP_001036038.1:p.Asp159Asn
NM_001396052.1:c.475G>A	NP_001382981.1:p.Asp159Asn
NM_001396053.1:c.475G>A	NP_001382982.1:p.Asp159Asn
NM_001396054.1:c.475G>A	NP_001382983.1:p.Asp159Asn
NM_001396055.1:c.475G>A	NP_001382984.1:p.Asp159Asn