Canonical Allele Identifier: CA467235256

Gene: ENG

Linked Data

• gnomAD v4: 9-127854344-G-A
• MyVariant Identifiers: chr9:g.130616623G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854344G>A , CM000671.2:g.127854344G>A	GRCh38
NC_000009.11:g.130616623G>A , CM000671.1:g.130616623G>A	GRCh37
NC_000009.10:g.129656444G>A	NCBI36
NG_009551.1:g.5425C>T , LRG_589:g.5425C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.12C>T MANE Select	ENSP00000362299.4:p.Gly4=
ENST00000344849.4:c.12C>T	ENSP00000341917.3:p.Gly4=
ENST00000373203.8:c.12C>T	ENSP00000362299.4:p.Gly4=
NM_000118.3:c.12C>T , LRG_589t1:c.12C>T	NP_000109.1:p.Gly4=
NM_001114753.2:c.12C>T , LRG_589t2:c.12C>T	NP_001108225.1:p.Gly4=
NM_001114753.3:c.12C>T MANE Select	NP_001108225.1:p.Gly4=