Canonical Allele Identifier: CA374973985

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818122G>A , CM000671.2:g.127818122G>A	GRCh38
NC_000009.11:g.130580401G>A , CM000671.1:g.130580401G>A	GRCh37
NC_000009.10:g.129620222G>A	NCBI36
NG_009551.1:g.41647C>T , LRG_589:g.41647C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1684C>T MANE Select	NP_001108225.1:p.Gln562Ter
ENST00000373203.9:c.1684C>T MANE Select	ENSP00000362299.4:p.Gln562Ter
NM_000118.3:c.1684C>T , LRG_589t1:c.1684C>T	NP_000109.1:p.Gln562Ter
NM_001114753.2:c.1684C>T , LRG_589t2:c.1684C>T	NP_001108225.1:p.Gln562Ter
NM_001278138.1:c.1138C>T	NP_001265067.1:p.Gln380Ter
NM_001278138.2:c.1138C>T	NP_001265067.1:p.Gln380Ter
NR_136302.1:n.1378-189G>A
ENST00000344849.4:c.1684C>T	ENSP00000341917.3:p.Gln562Ter
ENST00000373203.8:c.1684C>T	ENSP00000362299.4:p.Gln562Ter
ENST00000480266.5:c.1138C>T	ENSP00000479015.1:p.Gln380Ter
ENST00000480266.6:c.1138C>T	ENSP00000479015.1:p.Gln380Ter