Canonical Allele Identifier: CA467222164
Gene: ENG HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130579377A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127817098A>G , CM000671.2:g.127817098A>G GRCh38
NC_000009.11:g.130579377A>G , CM000671.1:g.130579377A>G GRCh37
NC_000009.10:g.129619198A>G NCBI36
NG_009551.1:g.42671T>C , LRG_589:g.42671T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.1195+51T>C ENSP00000479015.1:n.1195+51T>C
ENST00000373203.9:c.1741+51T>C MANE Select ENSP00000362299.4:n.1741+51T>C
ENST00000344849.4:c.1741+51T>C ENSP00000341917.3:n.1741+51T>C
ENST00000373203.8:c.1741+51T>C ENSP00000362299.4:n.1741+51T>C
ENST00000480266.5:c.1195+51T>C ENSP00000479015.1:n.1195+51T>C
NM_000118.3:c.1741+51T>C , LRG_589t1:c.1741+51T>C NP_000109.1:n.1741+51T>C
NM_001114753.2:c.1741+51T>C , LRG_589t2:c.1741+51T>C NP_001108225.1:n.1741+51T>C
NM_001278138.1:c.1195+51T>C NP_001265067.1:n.1195+51T>C
XM_011519273.1:c.520A>G XP_011517575.1:p.Thr174Ala
NR_136302.1:n.1033A>G
NM_001114753.3:c.1741+51T>C MANE Select NP_001108225.1:n.1741+51T>C
NM_001278138.2:c.1195+51T>C NP_001265067.1:n.1195+51T>C