Canonical Allele Identifier: CA211415
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 161229
dbSNP Id: rs148002300

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815951G>A , CM000671.2:g.127815951G>A GRCh38
NC_000009.11:g.130578230G>A , CM000671.1:g.130578230G>A GRCh37
NC_000009.10:g.129618051G>A NCBI36
NG_009551.1:g.43818C>T , LRG_589:g.43818C>T
NG_023245.1:g.18077G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1298C>T ENSP00000479015.1:p.Ser433Leu
ENST00000373203.9:c.1844C>T MANE Select ENSP00000362299.4:p.Ser615Leu
ENST00000344849.4:c.1844C>T ENSP00000341917.3:p.Ser615Leu
ENST00000373203.8:c.1844C>T ENSP00000362299.4:p.Ser615Leu
ENST00000480266.5:c.1298C>T ENSP00000479015.1:p.Ser433Leu
NM_000118.3:c.1844C>T , LRG_589t1:c.1844C>T NP_000109.1:p.Ser615Leu
NM_001114753.2:c.1844C>T , LRG_589t2:c.1844C>T NP_001108225.1:p.Ser615Leu
NM_001278138.1:c.1298C>T NP_001265067.1:p.Ser433Leu
NM_001114753.3:c.1844C>T MANE Select NP_001108225.1:p.Ser615Leu
NM_001278138.2:c.1298C>T NP_001265067.1:p.Ser433Leu