Canonical Allele Identifier: CA374989529

Gene: ENG

Linked Data

• gnomAD v4: 9-127854298-T-G
• MyVariant Identifiers: chr9:g.130616577T>G (hg19) ; chr9:g.127854298T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127854298T>G , CM000671.2:g.127854298T>G	GRCh38
NC_000009.11:g.130616577T>G , CM000671.1:g.130616577T>G	GRCh37
NC_000009.10:g.129656398T>G	NCBI36
NG_009551.1:g.5471A>C , LRG_589:g.5471A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373203.9:c.58A>C MANE Select	ENSP00000362299.4:p.Ser20Arg
ENST00000344849.4:c.58A>C	ENSP00000341917.3:p.Ser20Arg
ENST00000373203.8:c.58A>C	ENSP00000362299.4:p.Ser20Arg
NM_000118.3:c.58A>C , LRG_589t1:c.58A>C	NP_000109.1:p.Ser20Arg
NM_001114753.2:c.58A>C , LRG_589t2:c.58A>C	NP_001108225.1:p.Ser20Arg
NM_001114753.3:c.58A>C MANE Select	NP_001108225.1:p.Ser20Arg