Canonical Allele Identifier: CA374989587

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130616594A>C (hg19) ; chr9:g.127854315A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854315A>C , CM000671.2:g.127854315A>C	GRCh38
NC_000009.11:g.130616594A>C , CM000671.1:g.130616594A>C	GRCh37
NC_000009.10:g.129656415A>C	NCBI36
NG_009551.1:g.5454T>G , LRG_589:g.5454T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.41T>G MANE Select	ENSP00000362299.4:p.Leu14Arg
ENST00000344849.4:c.41T>G	ENSP00000341917.3:p.Leu14Arg
ENST00000373203.8:c.41T>G	ENSP00000362299.4:p.Leu14Arg
NM_000118.3:c.41T>G , LRG_589t1:c.41T>G	NP_000109.1:p.Leu14Arg
NM_001114753.2:c.41T>G , LRG_589t2:c.41T>G	NP_001108225.1:p.Leu14Arg
NM_001114753.3:c.41T>G MANE Select	NP_001108225.1:p.Leu14Arg