Canonical Allele Identifier: CA8809769

Gene: ENGASE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79083761G>C , CM000679.2:g.79083761G>C	GRCh38
NC_000017.10:g.77079843G>C , CM000679.1:g.77079843G>C	GRCh37
NC_000017.9:g.74591438G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579016.6:c.1252G>C MANE Select	ENSP00000462333.1:p.Glu418Gln
ENST00000300682.14:c.1396G>C
ENST00000577783.2:n.148G>C
ENST00000579016.5:c.1252G>C	ENSP00000462333.1:p.Glu418Gln
ENST00000583041.2:n.291G>C
ENST00000584568.5:n.249G>C
NM_001042573.2:c.1252G>C	NP_001036038.1:p.Glu418Gln
XM_006722015.2:c.862G>C	XP_006722078.1:p.Glu288Gln
XM_006722016.2:c.862G>C	XP_006722079.1:p.Glu288Gln
XM_006722017.2:c.694G>C	XP_006722080.1:p.Glu232Gln
XM_006722018.2:c.370G>C	XP_006722081.1:p.Glu124Gln
XM_006722019.2:c.1143G>C	XP_006722082.1:p.Lys381Asn
XR_429918.1:n.1385G>C
XR_429919.1:n.1385G>C
XR_429920.1:n.1385G>C
XR_934534.1:n.1385G>C
XR_934535.1:n.1385G>C
XR_934536.1:n.1385G>C
XM_006722017.3:c.694G>C	XP_006722080.1:p.Glu232Gln
XM_006722018.3:c.370G>C	XP_006722081.1:p.Glu124Gln
XM_006722019.3:c.1143G>C	XP_006722082.1:p.Lys381Asn
XM_017024961.1:c.862G>C	XP_016880450.1:p.Glu288Gln
XR_001752594.1:n.2199G>C
NM_001042573.3:c.1252G>C MANE Select	NP_001036038.1:p.Glu418Gln
NM_001396052.1:c.1252G>C	NP_001382981.1:p.Glu418Gln
NM_001396053.1:c.1252G>C	NP_001382982.1:p.Glu418Gln
NM_001396054.1:c.1441G>C	NP_001382983.1:p.Glu481Gln
NM_001396055.1:c.1252G>C	NP_001382984.1:p.Glu418Gln