Canonical Allele Identifier: CA5253224
Community Standard Title: NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)
Gene: ENG HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127843192C>T , CM000671.2:g.127843192C>T GRCh38
NC_000009.11:g.130605471C>T , CM000671.1:g.130605471C>T GRCh37
NC_000009.10:g.129645292C>T NCBI36
NG_009551.1:g.16577G>A , LRG_589:g.16577G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001114753.3:c.121G>A MANE Select NP_001108225.1:p.Glu41Lys
ENST00000373203.9:c.121G>A MANE Select ENSP00000362299.4:p.Glu41Lys
NM_000118.3:c.121G>A , LRG_589t1:c.121G>A NP_000109.1:p.Glu41Lys
NM_001114753.2:c.121G>A , LRG_589t2:c.121G>A NP_001108225.1:p.Glu41Lys
NM_001278138.1:c.-426G>A NP_001265067.1:n.-426G>A
NM_001278138.2:c.-426G>A NP_001265067.1:n.-426G>A
ENST00000344849.4:c.121G>A ENSP00000341917.3:p.Glu41Lys
ENST00000373203.8:c.121G>A ENSP00000362299.4:p.Glu41Lys
ENST00000480266.5:c.-426G>A ENSP00000479015.1:n.-426G>A
ENST00000480266.6:c.-426G>A ENSP00000479015.1:n.-426G>A
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