Canonical Allele Identifier: CA1879981353

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815770G= , CM000671.2:g.127815770G=	GRCh38
NC_000009.11:g.130578049G= , CM000671.1:g.130578049G=	GRCh37
NC_000009.10:g.129617870G=	NCBI36
NG_009551.1:g.43999C= , LRG_589:g.43999C=
NG_023245.1:g.17896G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1343C=	ENSP00000479015.1:p.Ala448=
ENST00000373203.9:c.1889C= MANE Select	ENSP00000362299.4:p.Ala630=
ENST00000344849.4:c.*147C=	ENSP00000341917.3:n.*147C=
ENST00000373203.8:c.1889C=	ENSP00000362299.4:p.Ala630=
ENST00000480266.5:c.1343C=	ENSP00000479015.1:p.Ala448=
NM_000118.3:c.*147C= , LRG_589t1:c.*147C=	NP_000109.1:n.*147C=
NM_001114753.2:c.1889C= , LRG_589t2:c.1889C=	NP_001108225.1:p.Ala630=
NM_001278138.1:c.1343C=	NP_001265067.1:p.Ala448=
NM_001114753.3:c.1889C= MANE Select	NP_001108225.1:p.Ala630=
NM_001278138.2:c.1343C=	NP_001265067.1:p.Ala448=