Canonical Allele Identifier: CA374989634

Gene: ENG

Linked Data

• dbSNP Id: rs1372895534
• gnomAD v4: 9-127854331-C-A
• MyVariant Identifiers: chr9:g.130616610C>A (hg19) ; chr9:g.127854331C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854331C>A , CM000671.2:g.127854331C>A	GRCh38
NC_000009.11:g.130616610C>A , CM000671.1:g.130616610C>A	GRCh37
NC_000009.10:g.129656431C>A	NCBI36
NG_009551.1:g.5438G>T , LRG_589:g.5438G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.25G>T MANE Select	ENSP00000362299.4:p.Ala9Ser
ENST00000344849.4:c.25G>T	ENSP00000341917.3:p.Ala9Ser
ENST00000373203.8:c.25G>T	ENSP00000362299.4:p.Ala9Ser
NM_000118.3:c.25G>T , LRG_589t1:c.25G>T	NP_000109.1:p.Ala9Ser
NM_001114753.2:c.25G>T , LRG_589t2:c.25G>T	NP_001108225.1:p.Ala9Ser
NM_001114753.3:c.25G>T MANE Select	NP_001108225.1:p.Ala9Ser