Canonical Allele Identifier: CA401311428

Gene: ENGASE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.79077771T>C , CM000679.2:g.79077771T>C	GRCh38
NC_000017.10:g.77073853T>C , CM000679.1:g.77073853T>C	GRCh37
NC_000017.9:g.74585448T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311595.14:c.323T>C	ENSP00000308158.10:p.Leu108Pro
ENST00000578419.6:c.323T>C	ENSP00000463537.1:p.Leu108Pro
ENST00000579016.6:c.323T>C MANE Select	ENSP00000462333.1:p.Leu108Pro
ENST00000311595.13:c.199T>C
ENST00000578419.5:c.323T>C	ENSP00000463537.1:p.Leu108Pro
ENST00000579016.5:c.323T>C	ENSP00000462333.1:p.Leu108Pro
NM_001042573.2:c.323T>C	NP_001036038.1:p.Leu108Pro
XM_006722015.2:c.-68T>C	XP_006722078.1:n.-68T>C
XM_006722016.2:c.-68T>C	XP_006722079.1:n.-68T>C
XM_006722019.2:c.323T>C	XP_006722082.1:p.Leu108Pro
XR_429918.1:n.456T>C
XR_429919.1:n.456T>C
XR_429920.1:n.456T>C
XR_934534.1:n.456T>C
XR_934535.1:n.456T>C
XR_934536.1:n.456T>C
XM_006722017.3:c.-87T>C	XP_006722080.1:n.-87T>C
XM_006722019.3:c.323T>C	XP_006722082.1:p.Leu108Pro
XM_017024961.1:c.-68T>C	XP_016880450.1:n.-68T>C
XR_001752594.1:n.456T>C
NM_001042573.3:c.323T>C MANE Select	NP_001036038.1:p.Leu108Pro
NM_001396052.1:c.323T>C	NP_001382981.1:p.Leu108Pro
NM_001396053.1:c.323T>C	NP_001382982.1:p.Leu108Pro
NM_001396054.1:c.323T>C	NP_001382983.1:p.Leu108Pro
NM_001396055.1:c.323T>C	NP_001382984.1:p.Leu108Pro