Canonical Allele Identifier: CA350996470

Gene: ECEL1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232480716A>T , CM000664.2:g.232480716A>T	GRCh38
NC_000002.11:g.233345426A>T , CM000664.1:g.233345426A>T	GRCh37
NC_000002.10:g.233053670A>T	NCBI36
NG_034065.1:g.12144T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304546.6:c.2151+2T>A MANE Select	ENSP00000302051.1:n.2151+2T>A
ENST00000304546.5:c.2151+2T>A	ENSP00000302051.1:n.2151+2T>A
ENST00000409941.1:c.2145+2T>A	ENSP00000386333.1:n.2145+2T>A
ENST00000411860.5:c.330+2T>A	ENSP00000412683.1:n.330+2T>A
ENST00000482346.1:n.2462+2T>A
NM_001290787.1:c.2145+2T>A	NP_001277716.1:n.2145+2T>A
NM_004826.3:c.2151+2T>A	NP_004817.2:n.2151+2T>A
NM_004826.4:c.2151+2T>A MANE Select	NP_004817.2:n.2151+2T>A
NM_001290787.2:c.2145+2T>A	NP_001277716.1:n.2145+2T>A