Canonical Allele Identifier: CA374983712

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825815A>T , CM000671.2:g.127825815A>T	GRCh38
NC_000009.11:g.130588094A>T , CM000671.1:g.130588094A>T	GRCh37
NC_000009.10:g.129627915A>T	NCBI36
NG_009551.1:g.33954T>A , LRG_589:g.33954T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.569T>A MANE Select	NP_001108225.1:p.Met190Lys
ENST00000373203.9:c.569T>A MANE Select	ENSP00000362299.4:p.Met190Lys
NM_000118.3:c.569T>A , LRG_589t1:c.569T>A	NP_000109.1:p.Met190Lys
NM_001114753.2:c.569T>A , LRG_589t2:c.569T>A	NP_001108225.1:p.Met190Lys
NM_001278138.1:c.23T>A	NP_001265067.1:p.Met8Lys
NM_001278138.2:c.23T>A	NP_001265067.1:p.Met8Lys
ENST00000344849.4:c.569T>A	ENSP00000341917.3:p.Met190Lys
ENST00000373203.8:c.569T>A	ENSP00000362299.4:p.Met190Lys
ENST00000462196.1:n.469T>A
ENST00000480266.5:c.23T>A	ENSP00000479015.1:p.Met8Lys
ENST00000480266.6:c.23T>A	ENSP00000479015.1:p.Met8Lys
XR_001746952.2:n.82+357A>T