Canonical Allele Identifier: CA5252644

Gene: ENG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816068C>T , CM000671.2:g.127816068C>T	GRCh38
NC_000009.11:g.130578347C>T , CM000671.1:g.130578347C>T	GRCh37
NC_000009.10:g.129618168C>T	NCBI36
NG_009551.1:g.43701G>A , LRG_589:g.43701G>A
NG_023245.1:g.18194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1196-15G>A	ENSP00000479015.1:n.1196-15G>A
ENST00000373203.9:c.1742-15G>A MANE Select	ENSP00000362299.4:n.1742-15G>A
ENST00000344849.4:c.1742-15G>A	ENSP00000341917.3:n.1742-15G>A
ENST00000373203.8:c.1742-15G>A	ENSP00000362299.4:n.1742-15G>A
ENST00000480266.5:c.1196-15G>A	ENSP00000479015.1:n.1196-15G>A
NM_000118.3:c.1742-15G>A , LRG_589t1:c.1742-15G>A	NP_000109.1:n.1742-15G>A
NM_001114753.2:c.1742-15G>A , LRG_589t2:c.1742-15G>A	NP_001108225.1:n.1742-15G>A
NM_001278138.1:c.1196-15G>A	NP_001265067.1:n.1196-15G>A
XM_011519273.1:c.-511C>T	XP_011517575.1:n.-511C>T
NR_136302.1:n.3C>T
NM_001114753.3:c.1742-15G>A MANE Select	NP_001108225.1:n.1742-15G>A
NM_001278138.2:c.1196-15G>A	NP_001265067.1:n.1196-15G>A