Canonical Allele Identifier: CA374983508

Gene: ENG

Linked Data

• ClinVar Variation Id: 528069
• ClinVar RCV Id: RCV000633149
• MyVariant Identifiers: chr9:g.130587990G>C (hg19) ; chr9:g.127825711G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825711G>C , CM000671.2:g.127825711G>C	GRCh38
NC_000009.11:g.130587990G>C , CM000671.1:g.130587990G>C	GRCh37
NC_000009.10:g.129627811G>C	NCBI36
NG_009551.1:g.34058C>G , LRG_589:g.34058C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373203.9:c.673C>G MANE Select	ENSP00000362299.4:p.Pro225Ala
ENST00000344849.4:c.673C>G	ENSP00000341917.3:p.Pro225Ala
ENST00000373203.8:c.673C>G	ENSP00000362299.4:p.Pro225Ala
ENST00000480266.5:c.127C>G	ENSP00000479015.1:p.Pro43Ala
NM_000118.3:c.673C>G , LRG_589t1:c.673C>G	NP_000109.1:p.Pro225Ala
NM_001114753.2:c.673C>G , LRG_589t2:c.673C>G	NP_001108225.1:p.Pro225Ala
NM_001278138.1:c.127C>G	NP_001265067.1:p.Pro43Ala
XR_001746952.2:n.82+253G>C
NM_001114753.3:c.673C>G MANE Select	NP_001108225.1:p.Pro225Ala
NM_001278138.2:c.127C>G	NP_001265067.1:p.Pro43Ala