Canonical Allele Identifier: CA200302389

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816921C>G , CM000671.2:g.127816921C>G	GRCh38
NC_000009.11:g.130579200C>G , CM000671.1:g.130579200C>G	GRCh37
NC_000009.10:g.129619021C>G	NCBI36
NG_009551.1:g.42848G>C , LRG_589:g.42848G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1741+228G>C MANE Select	NP_001108225.1:n.1741+228G>C
ENST00000373203.9:c.1741+228G>C MANE Select	ENSP00000362299.4:n.1741+228G>C
NM_000118.3:c.1741+228G>C , LRG_589t1:c.1741+228G>C	NP_000109.1:n.1741+228G>C
NM_001114753.2:c.1741+228G>C , LRG_589t2:c.1741+228G>C	NP_001108225.1:n.1741+228G>C
NM_001278138.1:c.1195+228G>C	NP_001265067.1:n.1195+228G>C
NM_001278138.2:c.1195+228G>C	NP_001265067.1:n.1195+228G>C
NR_136302.1:n.856C>G
ENST00000344849.4:c.1741+228G>C	ENSP00000341917.3:n.1741+228G>C
ENST00000373203.8:c.1741+228G>C	ENSP00000362299.4:n.1741+228G>C
ENST00000480266.5:c.1195+228G>C	ENSP00000479015.1:n.1195+228G>C
ENST00000480266.6:c.1195+228G>C	ENSP00000479015.1:n.1195+228G>C
XM_011519273.1:c.343C>G	XP_011517575.1:p.His115Asp