Canonical Allele Identifier: CA5253001
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127825320C>T
GRCh37 chr9:g.130587599C>T
Revel Score:
ENST00000373203 (MANE Select) 0.023
ENST00000344849 0.023
ENST00000545345 0.023
ENST00000546301 0.023
gnomAD v2:
9:130587599 C / T
gnomAD v3:
9:127825320 C / T
gnomAD v4:
chr9-127825320-C-T
Joint Max Group AF 0.00005342 (AFR)
Genomes Max Group AF 0.00004836 (AFR)
Exomes Max Group AF 0.00002374 (AFR)
ClinVar RCV:
RCV000508217
RCV001370738
ClinVar Variation:
439648
dbSNP:
761827492
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825320C>T , CM000671.2:g.127825320C>T GRCh38
NC_000009.11:g.130587599C>T , CM000671.1:g.130587599C>T GRCh37
NC_000009.10:g.129627420C>T NCBI36
NG_009551.1:g.34449G>A , LRG_589:g.34449G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.181G>A ENSP00000479015.1:p.Ala61Thr
ENST00000373203.9:c.727G>A MANE Select ENSP00000362299.4:p.Ala243Thr
ENST00000344849.4:c.727G>A ENSP00000341917.3:p.Ala243Thr
ENST00000373203.8:c.727G>A ENSP00000362299.4:p.Ala243Thr
ENST00000480266.5:c.181G>A ENSP00000479015.1:p.Ala61Thr
NM_000118.3:c.727G>A , LRG_589t1:c.727G>A NP_000109.1:p.Ala243Thr
NM_001114753.2:c.727G>A , LRG_589t2:c.727G>A NP_001108225.1:p.Ala243Thr
NM_001278138.1:c.181G>A NP_001265067.1:p.Ala61Thr
NM_001114753.3:c.727G>A MANE Select NP_001108225.1:p.Ala243Thr
NM_001278138.2:c.181G>A NP_001265067.1:p.Ala61Thr
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