Canonical Allele Identifier: CA8809745

Gene: ENGASE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79083540G>A , CM000679.2:g.79083540G>A	GRCh38
NC_000017.10:g.77079622G>A , CM000679.1:g.77079622G>A	GRCh37
NC_000017.9:g.74591217G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579016.6:c.1201G>A MANE Select	ENSP00000462333.1:p.Val401Ile
ENST00000300682.14:c.1345G>A
ENST00000577783.2:n.97G>A
ENST00000579016.5:c.1201G>A	ENSP00000462333.1:p.Val401Ile
ENST00000583041.2:n.240G>A
ENST00000584568.5:n.198G>A
NM_001042573.2:c.1201G>A	NP_001036038.1:p.Val401Ile
XM_006722015.2:c.811G>A	XP_006722078.1:p.Val271Ile
XM_006722016.2:c.811G>A	XP_006722079.1:p.Val271Ile
XM_006722017.2:c.643G>A	XP_006722080.1:p.Val215Ile
XM_006722018.2:c.319G>A	XP_006722081.1:p.Val107Ile
XM_006722019.2:c.1143-221G>A	XP_006722082.1:n.1143-221G>A
XR_429918.1:n.1334G>A
XR_429919.1:n.1334G>A
XR_429920.1:n.1334G>A
XR_934534.1:n.1334G>A
XR_934535.1:n.1334G>A
XR_934536.1:n.1334G>A
XM_006722017.3:c.643G>A	XP_006722080.1:p.Val215Ile
XM_006722018.3:c.319G>A	XP_006722081.1:p.Val107Ile
XM_006722019.3:c.1143-221G>A	XP_006722082.1:n.1143-221G>A
XM_017024961.1:c.811G>A	XP_016880450.1:p.Val271Ile
XR_001752594.1:n.2148G>A
NM_001042573.3:c.1201G>A MANE Select	NP_001036038.1:p.Val401Ile
NM_001396052.1:c.1201G>A	NP_001382981.1:p.Val401Ile
NM_001396053.1:c.1201G>A	NP_001382982.1:p.Val401Ile
NM_001396054.1:c.1390G>A	NP_001382983.1:p.Val464Ile
NM_001396055.1:c.1201G>A	NP_001382984.1:p.Val401Ile