Canonical Allele Identifier: CA374973971

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818120C>A , CM000671.2:g.127818120C>A	GRCh38
NC_000009.11:g.130580399C>A , CM000671.1:g.130580399C>A	GRCh37
NC_000009.10:g.129620220C>A	NCBI36
NG_009551.1:g.41649G>T , LRG_589:g.41649G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1686G>T MANE Select	NP_001108225.1:p.Gln562His
ENST00000373203.9:c.1686G>T MANE Select	ENSP00000362299.4:p.Gln562His
NM_000118.3:c.1686G>T , LRG_589t1:c.1686G>T	NP_000109.1:p.Gln562His
NM_001114753.2:c.1686G>T , LRG_589t2:c.1686G>T	NP_001108225.1:p.Gln562His
NM_001278138.1:c.1140G>T	NP_001265067.1:p.Gln380His
NM_001278138.2:c.1140G>T	NP_001265067.1:p.Gln380His
NR_136302.1:n.1378-191C>A
ENST00000344849.4:c.1686G>T	ENSP00000341917.3:p.Gln562His
ENST00000373203.8:c.1686G>T	ENSP00000362299.4:p.Gln562His
ENST00000480266.5:c.1140G>T	ENSP00000479015.1:p.Gln380His
ENST00000480266.6:c.1140G>T	ENSP00000479015.1:p.Gln380His