Canonical Allele Identifier: CA144838

Gene: ELAC2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.13002311G>A , CM000679.2:g.13002311G>A	GRCh38
NC_000017.10:g.12905628G>A , CM000679.1:g.12905628G>A	GRCh37
NC_000017.9:g.12846353G>A	NCBI36
NG_015808.1:g.20754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.1267C>T MANE Select	ENSP00000337445.4:p.Leu423Phe
ENST00000338034.8:c.1267C>T	ENSP00000337445.4:p.Leu423Phe
ENST00000395962.6:c.1210C>T	ENSP00000379291.1:p.Leu404Phe
ENST00000426905.7:c.1147C>T	ENSP00000405223.3:p.Leu383Phe
ENST00000446899.5:c.605C>T
ENST00000476042.1:c.293C>T
ENST00000480891.5:n.1096C>T
ENST00000484122.5:n.1529C>T
ENST00000487229.6:n.813C>T
ENST00000492559.5:n.74C>T
ENST00000578104.1:n.577C>T
ENST00000578991.5:n.334C>T
ENST00000584650.5:c.666C>T
NM_001165962.1:c.1147C>T	NP_001159434.1:p.Leu383Phe
NM_018127.6:c.1267C>T	NP_060597.4:p.Leu423Phe
NM_173717.1:c.1264C>T	NP_776065.1:p.Leu422Phe
XM_024450850.1:c.1348C>T	XP_024306618.1:p.Leu450Phe
XM_024450851.1:c.1348C>T	XP_024306619.1:p.Leu450Phe
XM_024450852.1:c.1267C>T	XP_024306620.1:p.Leu423Phe
XM_024450853.1:c.1264C>T	XP_024306621.1:p.Leu422Phe
XM_024450854.1:c.1228C>T	XP_024306622.1:p.Leu410Phe
XM_024450855.1:c.1147C>T	XP_024306623.1:p.Leu383Phe
XM_024450856.1:c.1066C>T	XP_024306624.1:p.Leu356Phe
XM_024450857.1:c.1066C>T	XP_024306625.1:p.Leu356Phe
XM_024450858.1:c.985C>T	XP_024306626.1:p.Leu329Phe
XM_024450859.1:c.982C>T	XP_024306627.1:p.Leu328Phe
XM_024450860.1:c.985C>T	XP_024306628.1:p.Leu329Phe
XM_024450861.1:c.985C>T	XP_024306629.1:p.Leu329Phe
XM_024450862.1:c.982C>T	XP_024306630.1:p.Leu328Phe
NM_018127.7:c.1267C>T MANE Select	NP_060597.4:p.Leu423Phe
NM_001165962.2:c.1147C>T	NP_001159434.1:p.Leu383Phe
NM_173717.2:c.1264C>T	NP_776065.1:p.Leu422Phe