Canonical Allele Identifier: CA374978643

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819992A>G , CM000671.2:g.127819992A>G	GRCh38
NC_000009.11:g.130582271A>G , CM000671.1:g.130582271A>G	GRCh37
NC_000009.10:g.129622092A>G	NCBI36
NG_009551.1:g.39777T>C , LRG_589:g.39777T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1180T>C MANE Select	NP_001108225.1:p.Cys394Arg
ENST00000373203.9:c.1180T>C MANE Select	ENSP00000362299.4:p.Cys394Arg
NM_000118.3:c.1180T>C , LRG_589t1:c.1180T>C	NP_000109.1:p.Cys394Arg
NM_001114753.2:c.1180T>C , LRG_589t2:c.1180T>C	NP_001108225.1:p.Cys394Arg
NM_001278138.1:c.634T>C	NP_001265067.1:p.Cys212Arg
NM_001278138.2:c.634T>C	NP_001265067.1:p.Cys212Arg
NR_136302.1:n.1569-1203A>G
ENST00000344849.4:c.1180T>C	ENSP00000341917.3:p.Cys394Arg
ENST00000373203.8:c.1180T>C	ENSP00000362299.4:p.Cys394Arg
ENST00000480266.5:c.634T>C	ENSP00000479015.1:p.Cys212Arg
ENST00000480266.6:c.634T>C	ENSP00000479015.1:p.Cys212Arg
ENST00000486329.1:n.148T>C