Canonical Allele Identifier: CA200301204

Gene: ENG

Linked Data

• dbSNP Id: rs964710604
• MyVariant Identifiers: chr9:g.130578068C>T (hg19) ; chr9:g.127815789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815789C>T , CM000671.2:g.127815789C>T	GRCh38
NC_000009.11:g.130578068C>T , CM000671.1:g.130578068C>T	GRCh37
NC_000009.10:g.129617889C>T	NCBI36
NG_009551.1:g.43980G>A , LRG_589:g.43980G>A
NG_023245.1:g.17915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1324G>A	ENSP00000479015.1:p.Glu442Lys
ENST00000373203.9:c.1870G>A MANE Select	ENSP00000362299.4:p.Glu624Lys
ENST00000344849.4:c.*128G>A	ENSP00000341917.3:n.*128G>A
ENST00000373203.8:c.1870G>A	ENSP00000362299.4:p.Glu624Lys
ENST00000480266.5:c.1324G>A	ENSP00000479015.1:p.Glu442Lys
NM_000118.3:c.*128G>A , LRG_589t1:c.*128G>A	NP_000109.1:n.*128G>A
NM_001114753.2:c.1870G>A , LRG_589t2:c.1870G>A	NP_001108225.1:p.Glu624Lys
NM_001278138.1:c.1324G>A	NP_001265067.1:p.Glu442Lys
NM_001114753.3:c.1870G>A MANE Select	NP_001108225.1:p.Glu624Lys
NM_001278138.2:c.1324G>A	NP_001265067.1:p.Glu442Lys