Canonical Allele Identifier: CA374985998

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130592024A>G (hg19) ; chr9:g.127829745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829745A>G , CM000671.2:g.127829745A>G	GRCh38
NC_000009.11:g.130592024A>G , CM000671.1:g.130592024A>G	GRCh37
NC_000009.10:g.129631845A>G	NCBI36
NG_009551.1:g.30024T>C , LRG_589:g.30024T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-245T>C	ENSP00000479015.1:n.-245T>C
ENST00000373203.9:c.302T>C MANE Select	ENSP00000362299.4:p.Val101Ala
ENST00000344849.4:c.302T>C	ENSP00000341917.3:p.Val101Ala
ENST00000373203.8:c.302T>C	ENSP00000362299.4:p.Val101Ala
ENST00000462196.1:n.60T>C
ENST00000480266.5:c.-245T>C	ENSP00000479015.1:n.-245T>C
NM_000118.3:c.302T>C , LRG_589t1:c.302T>C	NP_000109.1:p.Val101Ala
NM_001114753.2:c.302T>C , LRG_589t2:c.302T>C	NP_001108225.1:p.Val101Ala
NM_001278138.1:c.-245T>C	NP_001265067.1:n.-245T>C
XR_001746952.2:n.83-2653A>G
NM_001114753.3:c.302T>C MANE Select	NP_001108225.1:p.Val101Ala
NM_001278138.2:c.-245T>C	NP_001265067.1:n.-245T>C