Canonical Allele Identifier: CA8809257

Gene: ENGASE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79077480C>T , CM000679.2:g.79077480C>T	GRCh38
NC_000017.10:g.77073562C>T , CM000679.1:g.77073562C>T	GRCh37
NC_000017.9:g.74585157C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001042573.3:c.197C>T MANE Select	NP_001036038.1:p.Ser66Phe
ENST00000579016.6:c.197C>T MANE Select	ENSP00000462333.1:p.Ser66Phe
NM_001042573.2:c.197C>T	NP_001036038.1:p.Ser66Phe
NM_001396052.1:c.197C>T	NP_001382981.1:p.Ser66Phe
NM_001396053.1:c.197C>T	NP_001382982.1:p.Ser66Phe
NM_001396054.1:c.197C>T	NP_001382983.1:p.Ser66Phe
NM_001396055.1:c.197C>T	NP_001382984.1:p.Ser66Phe
ENST00000311595.13:c.73C>T
ENST00000311595.14:c.197C>T	ENSP00000308158.10:p.Ser66Phe
ENST00000578419.5:c.197C>T	ENSP00000463537.1:p.Ser66Phe
ENST00000578419.6:c.197C>T	ENSP00000463537.1:p.Ser66Phe
ENST00000579016.5:c.197C>T	ENSP00000462333.1:p.Ser66Phe
XM_006722015.2:c.-190C>T	XP_006722078.1:n.-190C>T
XM_006722016.2:c.-190C>T	XP_006722079.1:n.-190C>T
XM_006722019.2:c.197C>T	XP_006722082.1:p.Ser66Phe
XM_006722019.3:c.197C>T	XP_006722082.1:p.Ser66Phe
XM_017024961.1:c.-190C>T	XP_016880450.1:n.-190C>T
XR_001752594.1:n.330C>T
XR_429918.1:n.330C>T
XR_429919.1:n.330C>T
XR_429920.1:n.330C>T
XR_934534.1:n.330C>T
XR_934535.1:n.330C>T
XR_934536.1:n.330C>T