Canonical Allele Identifier: CA374983539

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130588006G>C (hg19) ; chr9:g.127825727G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825727G>C , CM000671.2:g.127825727G>C	GRCh38
NC_000009.11:g.130588006G>C , CM000671.1:g.130588006G>C	GRCh37
NC_000009.10:g.129627827G>C	NCBI36
NG_009551.1:g.34042C>G , LRG_589:g.34042C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.111C>G	ENSP00000479015.1:p.His37Gln
ENST00000373203.9:c.657C>G MANE Select	ENSP00000362299.4:p.His219Gln
ENST00000344849.4:c.657C>G	ENSP00000341917.3:p.His219Gln
ENST00000373203.8:c.657C>G	ENSP00000362299.4:p.His219Gln
ENST00000480266.5:c.111C>G	ENSP00000479015.1:p.His37Gln
NM_000118.3:c.657C>G , LRG_589t1:c.657C>G	NP_000109.1:p.His219Gln
NM_001114753.2:c.657C>G , LRG_589t2:c.657C>G	NP_001108225.1:p.His219Gln
NM_001278138.1:c.111C>G	NP_001265067.1:p.His37Gln
XR_001746952.2:n.82+269G>C
NM_001114753.3:c.657C>G MANE Select	NP_001108225.1:p.His219Gln
NM_001278138.2:c.111C>G	NP_001265067.1:p.His37Gln