Canonical Allele Identifier: CA5252751

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818326G>C , CM000671.2:g.127818326G>C	GRCh38
NC_000009.11:g.130580605G>C , CM000671.1:g.130580605G>C	GRCh37
NC_000009.10:g.129620426G>C	NCBI36
NG_009551.1:g.41443C>G , LRG_589:g.41443C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1480C>G MANE Select	NP_001108225.1:p.His494Asp
ENST00000373203.9:c.1480C>G MANE Select	ENSP00000362299.4:p.His494Asp
NM_000118.3:c.1480C>G , LRG_589t1:c.1480C>G	NP_000109.1:p.His494Asp
NM_001114753.2:c.1480C>G , LRG_589t2:c.1480C>G	NP_001108225.1:p.His494Asp
NM_001278138.1:c.934C>G	NP_001265067.1:p.His312Asp
NM_001278138.2:c.934C>G	NP_001265067.1:p.His312Asp
NR_136302.1:n.1393G>C
ENST00000344849.4:c.1480C>G	ENSP00000341917.3:p.His494Asp
ENST00000373203.8:c.1480C>G	ENSP00000362299.4:p.His494Asp
ENST00000480266.5:c.934C>G	ENSP00000479015.1:p.His312Asp
ENST00000480266.6:c.934C>G	ENSP00000479015.1:p.His312Asp