Canonical Allele Identifier: CA374983640

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825775C>A , CM000671.2:g.127825775C>A	GRCh38
NC_000009.11:g.130588054C>A , CM000671.1:g.130588054C>A	GRCh37
NC_000009.10:g.129627875C>A	NCBI36
NG_009551.1:g.33994G>T , LRG_589:g.33994G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.609G>T MANE Select	NP_001108225.1:p.Leu203Phe
ENST00000373203.9:c.609G>T MANE Select	ENSP00000362299.4:p.Leu203Phe
NM_000118.3:c.609G>T , LRG_589t1:c.609G>T	NP_000109.1:p.Leu203Phe
NM_001114753.2:c.609G>T , LRG_589t2:c.609G>T	NP_001108225.1:p.Leu203Phe
NM_001278138.1:c.63G>T	NP_001265067.1:p.Leu21Phe
NM_001278138.2:c.63G>T	NP_001265067.1:p.Leu21Phe
ENST00000344849.4:c.609G>T	ENSP00000341917.3:p.Leu203Phe
ENST00000373203.8:c.609G>T	ENSP00000362299.4:p.Leu203Phe
ENST00000480266.5:c.63G>T	ENSP00000479015.1:p.Leu21Phe
ENST00000480266.6:c.63G>T	ENSP00000479015.1:p.Leu21Phe
XR_001746952.2:n.82+317C>A