Canonical Allele Identifier: CA2691808126

Gene: ENG

Linked Data

• gnomAD v4: 9-127829556-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829556T>G , CM000671.2:g.127829556T>G	GRCh38
NC_000009.11:g.130591835T>G , CM000671.1:g.130591835T>G	GRCh37
NC_000009.10:g.129631656T>G	NCBI36
NG_009551.1:g.30213A>C , LRG_589:g.30213A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-187+131A>C	ENSP00000479015.1:n.-187+131A>C
ENST00000373203.9:c.360+131A>C MANE Select	ENSP00000362299.4:n.360+131A>C
ENST00000344849.4:c.360+131A>C	ENSP00000341917.3:n.360+131A>C
ENST00000373203.8:c.360+131A>C	ENSP00000362299.4:n.360+131A>C
ENST00000462196.1:n.118+131A>C
ENST00000480266.5:c.-187+131A>C	ENSP00000479015.1:n.-187+131A>C
NM_000118.3:c.360+131A>C , LRG_589t1:c.360+131A>C	NP_000109.1:n.360+131A>C
NM_001114753.2:c.360+131A>C , LRG_589t2:c.360+131A>C	NP_001108225.1:n.360+131A>C
NM_001278138.1:c.-187+131A>C	NP_001265067.1:n.-187+131A>C
XR_001746952.2:n.83-2842T>G
NM_001114753.3:c.360+131A>C MANE Select	NP_001108225.1:n.360+131A>C
NM_001278138.2:c.-187+131A>C	NP_001265067.1:n.-187+131A>C