Canonical Allele Identifier: CA374981858

Gene: ENG

Linked Data

• gnomAD v4: 9-127824800-C-A
• MyVariant Identifiers: chr9:g.130587079C>A (hg19) ; chr9:g.127824800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824800C>A , CM000671.2:g.127824800C>A	GRCh38
NC_000009.11:g.130587079C>A , CM000671.1:g.130587079C>A	GRCh37
NC_000009.10:g.129626900C>A	NCBI36
NG_009551.1:g.34969G>T , LRG_589:g.34969G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.445G>T	ENSP00000479015.1:p.Gly149Cys
ENST00000373203.9:c.991G>T MANE Select	ENSP00000362299.4:p.Gly331Cys
ENST00000344849.4:c.991G>T	ENSP00000341917.3:p.Gly331Cys
ENST00000373203.8:c.991G>T	ENSP00000362299.4:p.Gly331Cys
ENST00000480266.5:c.445G>T	ENSP00000479015.1:p.Gly149Cys
NM_000118.3:c.991G>T , LRG_589t1:c.991G>T	NP_000109.1:p.Gly331Cys
NM_001114753.2:c.991G>T , LRG_589t2:c.991G>T	NP_001108225.1:p.Gly331Cys
NM_001278138.1:c.445G>T	NP_001265067.1:p.Gly149Cys
NM_001114753.3:c.991G>T MANE Select	NP_001108225.1:p.Gly331Cys
NM_001278138.2:c.445G>T	NP_001265067.1:p.Gly149Cys