Canonical Allele Identifier: CA1879989982
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127820012A= , CM000671.2:g.127820012A= GRCh38
NC_000009.11:g.130582291A= , CM000671.1:g.130582291A= GRCh37
NC_000009.10:g.129622112A= NCBI36
NG_009551.1:g.39757T= , LRG_589:g.39757T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.614T= ENSP00000479015.1:p.Leu205=
ENST00000373203.9:c.1160T= MANE Select ENSP00000362299.4:p.Leu387=
ENST00000344849.4:c.1160T= ENSP00000341917.3:p.Leu387=
ENST00000373203.8:c.1160T= ENSP00000362299.4:p.Leu387=
ENST00000480266.5:c.614T= ENSP00000479015.1:p.Leu205=
ENST00000486329.1:n.128T=
NM_000118.3:c.1160T= , LRG_589t1:c.1160T= NP_000109.1:p.Leu387=
NM_001114753.2:c.1160T= , LRG_589t2:c.1160T= NP_001108225.1:p.Leu387=
NM_001278138.1:c.614T= NP_001265067.1:p.Leu205=
NR_136302.1:n.1569-1183A=
NM_001114753.3:c.1160T= MANE Select NP_001108225.1:p.Leu387=
NM_001278138.2:c.614T= NP_001265067.1:p.Leu205=