Canonical Allele Identifier: CA5253050

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825697G>A , CM000671.2:g.127825697G>A	GRCh38
NC_000009.11:g.130587976G>A , CM000671.1:g.130587976G>A	GRCh37
NC_000009.10:g.129627797G>A	NCBI36
NG_009551.1:g.34072C>T , LRG_589:g.34072C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.687C>T MANE Select	NP_001108225.1:p.Ala229=
ENST00000373203.9:c.687C>T MANE Select	ENSP00000362299.4:p.Ala229=
NM_000118.3:c.687C>T , LRG_589t1:c.687C>T	NP_000109.1:p.Ala229=
NM_001114753.2:c.687C>T , LRG_589t2:c.687C>T	NP_001108225.1:p.Ala229=
NM_001278138.1:c.141C>T	NP_001265067.1:p.Ala47=
NM_001278138.2:c.141C>T	NP_001265067.1:p.Ala47=
ENST00000344849.4:c.687C>T	ENSP00000341917.3:p.Ala229=
ENST00000373203.8:c.687C>T	ENSP00000362299.4:p.Ala229=
ENST00000480266.5:c.141C>T	ENSP00000479015.1:p.Ala47=
ENST00000480266.6:c.141C>T	ENSP00000479015.1:p.Ala47=
XR_001746952.2:n.82+239G>A