Canonical Allele Identifier: CA374989175
Community Standard Title: NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127843224C>T , CM000671.2:g.127843224C>T GRCh38
NC_000009.11:g.130605503C>T , CM000671.1:g.130605503C>T GRCh37
NC_000009.10:g.129645324C>T NCBI36
NG_009551.1:g.16545G>A , LRG_589:g.16545G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001114753.3:c.89G>A MANE Select NP_001108225.1:p.Cys30Tyr
ENST00000373203.9:c.89G>A MANE Select ENSP00000362299.4:p.Cys30Tyr
NM_000118.3:c.89G>A , LRG_589t1:c.89G>A NP_000109.1:p.Cys30Tyr
NM_001114753.2:c.89G>A , LRG_589t2:c.89G>A NP_001108225.1:p.Cys30Tyr
NM_001278138.1:c.-458G>A NP_001265067.1:n.-458G>A
NM_001278138.2:c.-458G>A NP_001265067.1:n.-458G>A
ENST00000344849.4:c.89G>A ENSP00000341917.3:p.Cys30Tyr
ENST00000373203.8:c.89G>A ENSP00000362299.4:p.Cys30Tyr
ENST00000480266.5:c.-458G>A ENSP00000479015.1:n.-458G>A
ENST00000480266.6:c.-458G>A ENSP00000479015.1:n.-458G>A